ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.758T>A (p.Leu253His)

gnomAD frequency: 0.00001  dbSNP: rs2072597253
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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 RCV002394155 SCV002668675 uncertain significance Cardiovascular phenotype 2022-03-06 criteria provided, single submitter clinical testing The p.L253H variant (also known as c.758T>A), located in coding exon 2 of the JPH2 gene, results from a T to A substitution at nucleotide position 758. The leucine at codon 253 is replaced by histidine, 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.

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