ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.310G>A (p.Val104Met)

gnomAD frequency: 0.00001  dbSNP: rs944503745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001042946 SCV001206655 uncertain significance Long QT syndrome 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 104 of the CAV3 protein (p.Val104Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. 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. 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.
CeGaT Center for Human Genetics Tuebingen RCV001310468 SCV001500277 uncertain significance not provided 2020-08-01 criteria provided, single submitter clinical testing
GeneDx RCV001310468 SCV001985248 uncertain significance not provided 2022-09-20 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function
Fulgent Genetics, Fulgent Genetics RCV002481899 SCV002787719 uncertain significance Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2021-09-10 criteria provided, single submitter clinical testing

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