ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.782C>T (p.Ala261Val)

gnomAD frequency: 0.00001  dbSNP: rs2072597044
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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 RCV001214842 SCV001386547 uncertain significance Hypertrophic cardiomyopathy 2019-06-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with JPH2-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 261 of the JPH2 protein (p.Ala261Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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