ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.2395A>G (p.Met799Val)

gnomAD frequency: 0.00001  dbSNP: rs150069336
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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 RCV002459602 SCV002737129 uncertain significance Cardiovascular phenotype 2024-10-28 criteria provided, single submitter clinical testing The p.M799V variant (also known as c.2395A>G), located in coding exon 16 of the VCL gene, results from an A to G substitution at nucleotide position 2395. The methionine at codon 799 is replaced by valine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species; however, valine is the reference amino acid in other vertebrate species. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003775224 SCV004659924 uncertain significance Dilated cardiomyopathy 1W 2023-04-04 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 1790604). This variant has not been reported in the literature in individuals affected with VCL-related conditions. This variant is present in population databases (rs150069336, gnomAD 0.007%). This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 799 of the VCL protein (p.Met799Val).
GeneDx RCV004817026 SCV005439620 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function

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