ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.235C>T (p.Arg79Cys)

gnomAD frequency: 0.00001  dbSNP: rs753220253
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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 RCV002740700 SCV003015291 uncertain significance Hypertrophic cardiomyopathy 2023-04-11 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1971395). This variant has not been reported in the literature in individuals affected with JPH2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 79 of the JPH2 protein (p.Arg79Cys).

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