ClinVar Miner

Submissions for variant NM_033337.3(CAV3):c.32C>T (p.Ala11Val)

gnomAD frequency: 0.00001  dbSNP: rs867194464
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621948 SCV000738233 uncertain significance Cardiovascular phenotype 2024-12-21 criteria provided, single submitter clinical testing The p.A11V variant (also known as c.32C>T), located in coding exon 1 of the CAV3 gene, results from a C to T substitution at nucleotide position 32. The alanine at codon 11 is replaced by valine, an amino acid with similar properties. This amino acid position is 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000631558 SCV000752640 uncertain significance Long QT syndrome 2024-05-06 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 11 of the CAV3 protein (p.Ala11Val). This variant is present in population databases (no rsID available, gnomAD 0.007%). 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: 519540). 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.
GeneDx RCV001764730 SCV001999791 likely benign not provided 2025-01-22 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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