Table 2 Pathogenic pLoF cardiac channelopathy variants as per ACMG/AMP guidelines
Gene | cDNA change | AA change | dbSNP ID | Variant type | Functional or segregation evidence | ClinVar | ACMG/AMP attributes | ACMG/AMP classification |
|---|---|---|---|---|---|---|---|---|
CASQ2 | c.706G > T | p.E236* | NA | stopgain | NA | NA | PVS1PM2PP3 | Pathogenic (Ic) |
CASQ2 | c.420 + 2 T > C$ | NA | NA | splicing | NA | NA | PVS1PM2PP3 | Pathogenic (Ic) |
TRDN | c.1537C > T | p.Q513* | rs757355311 | stopgain | NA | Pathogenic | PVS1PM2PP3PP5 | Pathogenic (Id) |
PKP2 | c.1237C > T | p.R413* | rs372827156 | stopgain | Heterozygotes for the variation showed ARVC phenotype in a family | Pathogenic | PVS1PM2PP1PP3PP5 | Pathogenic (Id) |
KCNQ1 | c.360del$ | p.W120* | NA | frameshift deletion | NA | NA | PVS1PM2PP3 | Pathogenic (Ic) |
KCNQ1 | c.524_534dup | p.G179Sfs*62 | rs879255588 | frameshift insertion | NA | Pathogenic/likely_pathogenic | PVS1PP5PM2PP3 | Pathogenic (Id) |