ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.416T>C (p.Val139Ala)

gnomAD frequency: 0.00001  dbSNP: rs756611208
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001923070 SCV002184604 uncertain significance Long QT syndrome 2022-07-26 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). ClinVar contains an entry for this variant (Variation ID: 1412080). This variant has not been reported in the literature in individuals affected with CAV3-related conditions. This variant is present in population databases (rs756611208, gnomAD 0.003%). This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 139 of the CAV3 protein (p.Val139Ala). 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 RCV004043355 SCV005029436 uncertain significance Cardiovascular phenotype 2023-12-12 criteria provided, single submitter clinical testing The p.V139A variant (also known as c.416T>C), located in coding exon 2 of the CAV3 gene, results from a T to C substitution at nucleotide position 416. The valine at codon 139 is replaced by alanine, 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.

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