ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu)

gnomAD frequency: 0.00001  dbSNP: rs1458411742
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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 RCV003187449 SCV003856148 uncertain significance Cardiovascular phenotype 2023-02-05 criteria provided, single submitter clinical testing The p.K361E variant (also known as c.1081A>G), located in coding exon 2 of the JPH2 gene, results from an A to G substitution at nucleotide position 1081. The lysine at codon 361 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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