ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)

gnomAD frequency: 0.00002  dbSNP: rs1244082467
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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 RCV002407561 SCV002716591 likely benign Cardiovascular phenotype 2024-12-19 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV002407561 SCV006065850 uncertain significance Cardiovascular phenotype 2025-04-09 criteria provided, single submitter clinical testing PM2, BP4

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