Results of genetic testing in short-coupled ventricular fibrillation probands
| Sex . | Gene . | Variant . | Consequence . | ACMG classification . | ACMG criteria applied . |
|---|---|---|---|---|---|
| F | FHOD3 | c.646G>A | p.V216I | VUS | PP3 |
| M | TPM1 | c.24G>C | p.E8D | VUS | PM2, PM5 |
| SOS1 | c.829C>A | p.P277T | VUS | PM2, PP3 | |
| M | TNNI3K | c.1450A>T | p.N484Y | Likely benign | PP3, BS1, BP1 |
| F | ANK2 | c.4879G>A | p.V1627I | VUS | PP3 |
| FLNC | c.6509G>A | p.R2170H | VUS | No criteria met | |
| M | FLNC | c.2891T>C | p.L964P | VUS | PM2, PP3 |
| F | CASQ2 | c.1185delC | p.D395Ef*22 | Likely pathogenic | PVS1, PM2, BP6 (AR inherited) |
| F | FLNC TRPM4 | c.1186A>G c.3170A>G | p.T396A p.Y1057C | VUS VUS | PM2 PM2, PP3 |
| Sex . | Gene . | Variant . | Consequence . | ACMG classification . | ACMG criteria applied . |
|---|---|---|---|---|---|
| F | FHOD3 | c.646G>A | p.V216I | VUS | PP3 |
| M | TPM1 | c.24G>C | p.E8D | VUS | PM2, PM5 |
| SOS1 | c.829C>A | p.P277T | VUS | PM2, PP3 | |
| M | TNNI3K | c.1450A>T | p.N484Y | Likely benign | PP3, BS1, BP1 |
| F | ANK2 | c.4879G>A | p.V1627I | VUS | PP3 |
| FLNC | c.6509G>A | p.R2170H | VUS | No criteria met | |
| M | FLNC | c.2891T>C | p.L964P | VUS | PM2, PP3 |
| F | CASQ2 | c.1185delC | p.D395Ef*22 | Likely pathogenic | PVS1, PM2, BP6 (AR inherited) |
| F | FLNC TRPM4 | c.1186A>G c.3170A>G | p.T396A p.Y1057C | VUS VUS | PM2 PM2, PP3 |
ACMG, American College of Medical Genetics and Genomics; AR, autosomal recessive; F, female; M, male; VUS, variant of unknown significance.
Results of genetic testing in short-coupled ventricular fibrillation probands
| Sex . | Gene . | Variant . | Consequence . | ACMG classification . | ACMG criteria applied . |
|---|---|---|---|---|---|
| F | FHOD3 | c.646G>A | p.V216I | VUS | PP3 |
| M | TPM1 | c.24G>C | p.E8D | VUS | PM2, PM5 |
| SOS1 | c.829C>A | p.P277T | VUS | PM2, PP3 | |
| M | TNNI3K | c.1450A>T | p.N484Y | Likely benign | PP3, BS1, BP1 |
| F | ANK2 | c.4879G>A | p.V1627I | VUS | PP3 |
| FLNC | c.6509G>A | p.R2170H | VUS | No criteria met | |
| M | FLNC | c.2891T>C | p.L964P | VUS | PM2, PP3 |
| F | CASQ2 | c.1185delC | p.D395Ef*22 | Likely pathogenic | PVS1, PM2, BP6 (AR inherited) |
| F | FLNC TRPM4 | c.1186A>G c.3170A>G | p.T396A p.Y1057C | VUS VUS | PM2 PM2, PP3 |
| Sex . | Gene . | Variant . | Consequence . | ACMG classification . | ACMG criteria applied . |
|---|---|---|---|---|---|
| F | FHOD3 | c.646G>A | p.V216I | VUS | PP3 |
| M | TPM1 | c.24G>C | p.E8D | VUS | PM2, PM5 |
| SOS1 | c.829C>A | p.P277T | VUS | PM2, PP3 | |
| M | TNNI3K | c.1450A>T | p.N484Y | Likely benign | PP3, BS1, BP1 |
| F | ANK2 | c.4879G>A | p.V1627I | VUS | PP3 |
| FLNC | c.6509G>A | p.R2170H | VUS | No criteria met | |
| M | FLNC | c.2891T>C | p.L964P | VUS | PM2, PP3 |
| F | CASQ2 | c.1185delC | p.D395Ef*22 | Likely pathogenic | PVS1, PM2, BP6 (AR inherited) |
| F | FLNC TRPM4 | c.1186A>G c.3170A>G | p.T396A p.Y1057C | VUS VUS | PM2 PM2, PP3 |
ACMG, American College of Medical Genetics and Genomics; AR, autosomal recessive; F, female; M, male; VUS, variant of unknown significance.
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