ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)

gnomAD frequency: 0.00001  dbSNP: rs1398034376
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003187448 SCV003856147 uncertain significance Cardiovascular phenotype 2023-02-05 criteria provided, single submitter clinical testing The p.R437W variant (also known as c.1309C>T), located in coding exon 4 of the JPH2 gene, results from a C to T substitution at nucleotide position 1309. The arginine at codon 437 is replaced by tryptophan, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003748465 SCV004460031 uncertain significance Hypertrophic cardiomyopathy 2023-07-26 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. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 437 of the JPH2 protein (p.Arg437Trp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with JPH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 2451752). 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.

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