Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825354 | SCV000966649 | uncertain significance | not specified | 2018-07-03 | criteria provided, single submitter | clinical testing | The p.Ser95Arg variant in KCNQ1 has not been previously reported in individuals with hearing loss, Jervell and Lange-Nielsen syndrome, or long QT syndrome, and was absent from large population studies. Computational prediction tools and con servation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Ser95Arg variant is un certain. ACMG/AMP Criteria applied: PM2. |
Invitae | RCV002536047 | SCV002947383 | uncertain significance | Long QT syndrome | 2022-03-18 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 666842). This variant has not been reported in the literature in individuals affected with KCNQ1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 95 of the KCNQ1 protein (p.Ser95Arg). |