ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)

gnomAD frequency: 0.00001  dbSNP: rs1397533355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002412901 SCV002712661 uncertain significance Cardiovascular phenotype 2022-04-09 criteria provided, single submitter clinical testing The p.A615V variant (also known as c.1844C>T), located in coding exon 4 of the JPH2 gene, results from a C to T substitution at nucleotide position 1844. The alanine at codon 615 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004725274 SCV005337215 uncertain significance JPH2-related disorder 2024-04-10 no assertion criteria provided clinical testing The JPH2 c.1844C>T variant is predicted to result in the amino acid substitution p.Ala615Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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