ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.434A>G (p.Gln145Arg)

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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 RCV004991826 SCV005602344 uncertain significance Cardiovascular phenotype 2024-07-15 criteria provided, single submitter clinical testing The p.Q145R variant (also known as c.434A>G), located in coding exon 2 of the JPH2 gene, results from an A to G substitution at nucleotide position 434. The glutamine at codon 145 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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