Extended description of participants diagnosed with CMT4C with at least one VUS in SH3TC2
| Nucleotide change (VUS underlined) . | Amino acid change . | Presence in gnomAD . | Trans arrangement . | Segregation analysis . | Computational algorithms . | Age at baseline exam (years) . | Ulnar nerve conduction velocity, CMAP amplitude . | CMTES . |
|---|---|---|---|---|---|---|---|---|
| c.1992G>T;1922G>T | p.Arg641Leu;Arg641Leu | Not present | N/A (homozygous) | Segregating phenotype | Predicted damaging by MetaSVM, MetaRNN, BayesDel addAF, DANN, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MutationAssessor, MutationTaster, and SIFT versus predicted benign by DEOGEN2, MVP and PrimateAI. | 41 | 47 m/s, 4.9 mV | 7 |
| c.2617C>T;2617C>T | p.His873Tyr;His873Tyr | Not present | N/A (homozygous) | Not performed | Predicted damaging by MetaLR, MetaSVM, FATHMM-MKL, LIST-S2, LRT, M-CAP, MVP, and SIFT versus predicted benign by BayesDel addAF, DEOGEN2, EIGEN, MutationAssessor, MutationTaster and PrimateAI. | 29 | 48 m/s, 9 mV | 6 |
| c.2039A>G;286°C>T | p.Tyr680Cys;Arg954Ter | Not present | Confirmed trans arrangement | Segregating phenotype | Predicted damaging by MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateA | 48 | 35 m/s, 4.2 mV | 14 |
| c.2528G>T;286°C>T | p.Gly843Val;Arg954Ter | Not present | Not confirmed | Not performed | Predicted damaging by MetaLR, MetaSVM, MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateAI | 28 | 15 m/s, 4.6 mV | 15 |
| Nucleotide change (VUS underlined) . | Amino acid change . | Presence in gnomAD . | Trans arrangement . | Segregation analysis . | Computational algorithms . | Age at baseline exam (years) . | Ulnar nerve conduction velocity, CMAP amplitude . | CMTES . |
|---|---|---|---|---|---|---|---|---|
| c.1992G>T;1922G>T | p.Arg641Leu;Arg641Leu | Not present | N/A (homozygous) | Segregating phenotype | Predicted damaging by MetaSVM, MetaRNN, BayesDel addAF, DANN, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MutationAssessor, MutationTaster, and SIFT versus predicted benign by DEOGEN2, MVP and PrimateAI. | 41 | 47 m/s, 4.9 mV | 7 |
| c.2617C>T;2617C>T | p.His873Tyr;His873Tyr | Not present | N/A (homozygous) | Not performed | Predicted damaging by MetaLR, MetaSVM, FATHMM-MKL, LIST-S2, LRT, M-CAP, MVP, and SIFT versus predicted benign by BayesDel addAF, DEOGEN2, EIGEN, MutationAssessor, MutationTaster and PrimateAI. | 29 | 48 m/s, 9 mV | 6 |
| c.2039A>G;286°C>T | p.Tyr680Cys;Arg954Ter | Not present | Confirmed trans arrangement | Segregating phenotype | Predicted damaging by MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateA | 48 | 35 m/s, 4.2 mV | 14 |
| c.2528G>T;286°C>T | p.Gly843Val;Arg954Ter | Not present | Not confirmed | Not performed | Predicted damaging by MetaLR, MetaSVM, MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateAI | 28 | 15 m/s, 4.6 mV | 15 |
At time of publication these four variants in subjects diagnosed with CMT4C had not accumulated enough evidence to be considered likely pathogenic or pathogenic by American College of Medical Genetics and Genomics criteria. Evidence that has been obtained to date on each variant is provided. N/A = Not Applicable.
Extended description of participants diagnosed with CMT4C with at least one VUS in SH3TC2
| Nucleotide change (VUS underlined) . | Amino acid change . | Presence in gnomAD . | Trans arrangement . | Segregation analysis . | Computational algorithms . | Age at baseline exam (years) . | Ulnar nerve conduction velocity, CMAP amplitude . | CMTES . |
|---|---|---|---|---|---|---|---|---|
| c.1992G>T;1922G>T | p.Arg641Leu;Arg641Leu | Not present | N/A (homozygous) | Segregating phenotype | Predicted damaging by MetaSVM, MetaRNN, BayesDel addAF, DANN, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MutationAssessor, MutationTaster, and SIFT versus predicted benign by DEOGEN2, MVP and PrimateAI. | 41 | 47 m/s, 4.9 mV | 7 |
| c.2617C>T;2617C>T | p.His873Tyr;His873Tyr | Not present | N/A (homozygous) | Not performed | Predicted damaging by MetaLR, MetaSVM, FATHMM-MKL, LIST-S2, LRT, M-CAP, MVP, and SIFT versus predicted benign by BayesDel addAF, DEOGEN2, EIGEN, MutationAssessor, MutationTaster and PrimateAI. | 29 | 48 m/s, 9 mV | 6 |
| c.2039A>G;286°C>T | p.Tyr680Cys;Arg954Ter | Not present | Confirmed trans arrangement | Segregating phenotype | Predicted damaging by MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateA | 48 | 35 m/s, 4.2 mV | 14 |
| c.2528G>T;286°C>T | p.Gly843Val;Arg954Ter | Not present | Not confirmed | Not performed | Predicted damaging by MetaLR, MetaSVM, MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateAI | 28 | 15 m/s, 4.6 mV | 15 |
| Nucleotide change (VUS underlined) . | Amino acid change . | Presence in gnomAD . | Trans arrangement . | Segregation analysis . | Computational algorithms . | Age at baseline exam (years) . | Ulnar nerve conduction velocity, CMAP amplitude . | CMTES . |
|---|---|---|---|---|---|---|---|---|
| c.1992G>T;1922G>T | p.Arg641Leu;Arg641Leu | Not present | N/A (homozygous) | Segregating phenotype | Predicted damaging by MetaSVM, MetaRNN, BayesDel addAF, DANN, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MutationAssessor, MutationTaster, and SIFT versus predicted benign by DEOGEN2, MVP and PrimateAI. | 41 | 47 m/s, 4.9 mV | 7 |
| c.2617C>T;2617C>T | p.His873Tyr;His873Tyr | Not present | N/A (homozygous) | Not performed | Predicted damaging by MetaLR, MetaSVM, FATHMM-MKL, LIST-S2, LRT, M-CAP, MVP, and SIFT versus predicted benign by BayesDel addAF, DEOGEN2, EIGEN, MutationAssessor, MutationTaster and PrimateAI. | 29 | 48 m/s, 9 mV | 6 |
| c.2039A>G;286°C>T | p.Tyr680Cys;Arg954Ter | Not present | Confirmed trans arrangement | Segregating phenotype | Predicted damaging by MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateA | 48 | 35 m/s, 4.2 mV | 14 |
| c.2528G>T;286°C>T | p.Gly843Val;Arg954Ter | Not present | Not confirmed | Not performed | Predicted damaging by MetaLR, MetaSVM, MetaRNN, REVEL, BayesDel_addAF, DANN, DEOGEN2, EIGEN, FATHMM-MKL, LIST-S2, M-CAP, MVP, MutationAssessor, MutationTaster and SIFT versus predicted benign by PrimateAI | 28 | 15 m/s, 4.6 mV | 15 |
At time of publication these four variants in subjects diagnosed with CMT4C had not accumulated enough evidence to be considered likely pathogenic or pathogenic by American College of Medical Genetics and Genomics criteria. Evidence that has been obtained to date on each variant is provided. N/A = Not Applicable.
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