ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.400G>A (p.Ala134Thr)

dbSNP: rs773309037
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000348197 SCV000342118 uncertain significance not provided 2016-05-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764517 SCV000895599 uncertain significance Elevated circulating creatine kinase concentration; Hypertrophic cardiomyopathy 1; Long QT syndrome 9; Rippling muscle disease 2; Distal myopathy, Tateyama type 2022-03-03 criteria provided, single submitter clinical testing
Invitae RCV001855199 SCV002151313 uncertain significance Long QT syndrome 2023-12-13 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 134 of the CAV3 protein (p.Ala134Thr). This variant is present in population databases (rs773309037, gnomAD 0.01%). 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: 288112). 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.
Ambry Genetics RCV004021242 SCV005029406 uncertain significance Cardiovascular phenotype 2023-10-25 criteria provided, single submitter clinical testing The p.A134T variant (also known as c.400G>A), located in coding exon 2 of the CAV3 gene, results from a G to A substitution at nucleotide position 400. The alanine at codon 134 is replaced by threonine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. 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.

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