Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000462529 | SCV000549187 | uncertain significance | Long QT syndrome | 2022-07-06 | criteria provided, single submitter | clinical testing | 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 disruptive. 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: 409254). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 61 of the CAV3 protein (p.Ser61Asn). |
Eurofins Ntd Llc |
RCV000735136 | SCV000863337 | uncertain significance | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496770 | SCV002814160 | uncertain significance | Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type | 2021-07-18 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000735136 | SCV003829260 | uncertain significance | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing |