ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.596G>A (p.Gly199Asp)

dbSNP: rs2072599448
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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 RCV001965831 SCV002239535 uncertain significance Hypertrophic cardiomyopathy 2021-01-06 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 199 of the JPH2 protein (p.Gly199Asp). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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