ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala)

dbSNP: rs2515718043
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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 RCV002414511 SCV002715225 uncertain significance Cardiovascular phenotype 2021-12-08 criteria provided, single submitter clinical testing The p.E559A variant (also known as c.1676A>C), located in coding exon 4 of the JPH2 gene, results from an A to C substitution at nucleotide position 1676. The glutamic acid at codon 559 is replaced by alanine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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