ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.487A>G (p.Asn163Asp)

dbSNP: rs2136272931
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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 RCV001373815 SCV001570547 uncertain significance Dilated cardiomyopathy 1W 2025-01-11 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 163 of the VCL protein (p.Asn163Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with VCL-related conditions. ClinVar contains an entry for this variant (Variation ID: 1063922). 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 disruptive. 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 RCV004037586 SCV005026236 uncertain significance Cardiovascular phenotype 2023-11-02 criteria provided, single submitter clinical testing The p.N163D variant (also known as c.487A>G), located in coding exon 4 of the VCL gene, results from an A to G substitution at nucleotide position 487. The asparagine at codon 163 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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