ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.614T>A (p.Leu205Gln)

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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 RCV004991832 SCV005602354 uncertain significance Cardiovascular phenotype 2024-09-17 criteria provided, single submitter clinical testing The p.L205Q variant (also known as c.614T>A), located in coding exon 2 of the JPH2 gene, results from a T to A substitution at nucleotide position 614. The leucine at codon 205 is replaced by glutamine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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