ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1597C>G (p.Arg533Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005363399 SCV006019254 uncertain significance Cardiovascular phenotype 2025-01-28 criteria provided, single submitter clinical testing The p.R533G variant (also known as c.1597C>G), located in coding exon 4 of the JPH2 gene, results from a C to G substitution at nucleotide position 1597. The arginine at codon 533 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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