ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.182G>A (p.Ser61Asn)

dbSNP: rs1060502315
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Total submissions: 4
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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 (ga) RCV000735136 SCV000863337 uncertain significance not provided 2018-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, 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, Revvity RCV000735136 SCV003829260 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing

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