ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1399C>G (p.Arg467Gly)

dbSNP: rs984065543
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689833 SCV000817501 uncertain significance Hypertrophic cardiomyopathy 2021-08-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004993952 SCV005602366 uncertain significance Cardiovascular phenotype 2024-10-14 criteria provided, single submitter clinical testing The p.R467G variant (also known as c.1399C>G), located in coding exon 4 of the JPH2 gene, results from a C to G substitution at nucleotide position 1399. The arginine at codon 467 is replaced by glycine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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