Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Genomics Program, |
RCV004733993 | SCV005367919 | uncertain significance | Congenital long QT syndrome | no assertion criteria provided | research | The c.3322G>A missense variant in CACNA1I is reported in gnomAD with an allele count of 16 and no homozygous individuals (PM2). It occurs in a critical domain of the gene (PM1), and in silico predictions suggest a damaging effect (PP3). ACMG codes: PM1, PM2, PP3. |