ClinVar Miner

Submissions for variant NM_014000.3(VCL):c.472G>T (p.Val158Phe)

gnomAD frequency: 0.00001  dbSNP: rs371583362
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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 RCV002636673 SCV003506331 uncertain significance Dilated cardiomyopathy 1W 2022-11-03 criteria provided, single submitter clinical testing This variant is present in population databases (rs371583362, gnomAD 0.003%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals affected with VCL-related conditions. This sequence change replaces valine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 158 of the VCL protein (p.Val158Phe).
GeneDx RCV003320918 SCV004025806 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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