Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics and Genomics Program, |
RCV004733985 | SCV005367909 | uncertain significance | Congenital long QT syndrome | no assertion criteria provided | research | The c.67271A>G missense variant in TTN is absent from population databases such as gnomAD (PM2). In silico predictions support its potential pathogenicity, with SIFT indicating it as pathogenic supporting (PP3). However, missense variants in TTN are frequently benign (BP1), and there is insufficient evidence to determine the clinical significance of this variant. As a result, it is classified as a VUS (ACMG codes: PP3, PM2, BP1). |