ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.254C>T (p.Ala85Val)

dbSNP: rs1553614440
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000537070 SCV000627772 uncertain significance Long QT syndrome 2017-05-09 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a CAV3-related disease. This sequence change replaces alanine with valine at codon 85 of the CAV3 protein (p.Ala85Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.
Fulgent Genetics, Fulgent Genetics RCV002497065 SCV002816108 uncertain significance Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2021-09-15 criteria provided, single submitter clinical testing

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