ClinVar Miner

Submissions for variant NM_014000.2(VCL):c.50C>A (p.Ala17Glu) (rs794729189)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183987 SCV000236481 uncertain significance not provided 2014-05-06 criteria provided, single submitter clinical testing p.Ala17Glu (GCA>GAA): c.50 C>A in exon 1 of the VCL gene (NM_014000.2). To our knowledge, the A17E variant has not been published as a mutation or as a benign polymorphism. The A17E variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A17E variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with cardiomyopathy, suggesting this region of the protein may be tolerant to change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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