ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.104A>G (p.Gln35Arg)

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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 RCV004991838 SCV005602362 uncertain significance Cardiovascular phenotype 2024-10-08 criteria provided, single submitter clinical testing The p.Q35R variant (also known as c.104A>G), located in coding exon 1 of the JPH2 gene, results from an A to G substitution at nucleotide position 104. The glutamine at codon 35 is replaced by arginine, an amino acid with highly similar 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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