ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.401C>T (p.Ala134Val)

gnomAD frequency: 0.00002  dbSNP: rs201267913
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000332606 SCV000329207 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing Has not been previously published in individuals with CAV3-related disease, to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 279736; Landrum et al., 2016); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function
Invitae RCV001062068 SCV001226840 uncertain significance Long QT syndrome 2023-08-19 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 134 of the CAV3 protein (p.Ala134Val). This variant is present in population databases (rs201267913, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. ClinVar contains an entry for this variant (Variation ID: 279736). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798766 SCV002042334 uncertain significance Cardiomyopathy 2019-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356363 SCV002622237 uncertain significance Cardiovascular phenotype 2022-03-09 criteria provided, single submitter clinical testing The p.A134V variant (also known as c.401C>T), located in coding exon 2 of the CAV3 gene, results from a C to T substitution at nucleotide position 401. The alanine at codon 134 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002494807 SCV002791833 uncertain significance Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2021-09-20 criteria provided, single submitter clinical testing

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