ClinVar Miner

Submissions for variant NM_000063.6(C2):c.1484C>T (p.Ala495Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003032587 SCV003334685 uncertain significance not provided 2022-08-19 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 495 of the C2 protein (p.Ala495Val). This variant has not been reported in the literature in individuals affected with C2-related conditions. This variant is not present in population databases (gnomAD no frequency).

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