ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)

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
Ambry Genetics RCV003187451 SCV003856150 uncertain significance Cardiovascular phenotype 2023-02-19 criteria provided, single submitter clinical testing The p.R79S variant (also known as c.235C>A), located in coding exon 1 of the JPH2 gene, results from a C to A substitution at nucleotide position 235. The arginine at codon 79 is replaced by serine, 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.

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