ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.317A>G (p.Tyr106Cys)

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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 RCV004991836 SCV005602358 uncertain significance Cardiovascular phenotype 2024-09-30 criteria provided, single submitter clinical testing The p.Y106C variant (also known as c.317A>G), located in coding exon 1 of the JPH2 gene, results from an A to G substitution at nucleotide position 317. The tyrosine at codon 106 is replaced by cysteine, an amino acid with highly dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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