ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.185T>C (p.Val62Ala) (rs769799445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460522 SCV000548803 uncertain significance Dilated cardiomyopathy 1W 2016-12-21 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 62 of the VCL protein (p.Val62Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is present in population databases (rs769799445, ExAC 0.009%) but has not been reported in the literature in individuals with a VCL-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000614341 SCV000713805 uncertain significance not specified 2017-12-15 criteria provided, single submitter clinical testing The p.Val62Ala variant in VCL has not been previously reported in individuals wi th cardiomyopathy, but has been identified in 10/33578 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs 769799445). This variant has also been reported in ClinVar (Variation ID:408954) . In summary, the clinical significance of the p.Val62Ala variant is uncertain a nd more information needs to be obtained in order to determine its clinical sign ificance. ACMG/AMP Criteria applied: None Applied.

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