ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.1946C>T (p.Ala649Val)

gnomAD frequency: 0.00001  dbSNP: rs1243442389
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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 RCV001995274 SCV002249739 uncertain significance Dilated cardiomyopathy 1W 2021-11-23 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 649 of the VCL protein (p.Ala649Val). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with VCL-related conditions. 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 RCV004042143 SCV003897232 uncertain significance Cardiovascular phenotype 2024-05-04 criteria provided, single submitter clinical testing The p.A649V variant (also known as c.1946C>T), located in coding exon 14 of the VCL gene, results from a C to T substitution at nucleotide position 1946. The alanine at codon 649 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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