ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.918C>A (p.Ser306Arg)

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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 RCV004635795 SCV005127411 uncertain significance Cardiovascular phenotype 2024-05-25 criteria provided, single submitter clinical testing The p.S306R variant (also known as c.918C>A), located in coding exon 2 of the JPH2 gene, results from a C to A substitution at nucleotide position 918. The serine at codon 306 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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