Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001954942 | SCV002199714 | uncertain significance | Long QT syndrome | 2022-09-04 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SNTA1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.05%). This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 76 of the SNTA1 protein (p.Gln76Arg). ClinVar contains an entry for this variant (Variation ID: 1423965). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. |