ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1233G>A (p.Glu411=)

gnomAD frequency: 0.00026  dbSNP: rs143061111
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617219 SCV000739992 likely benign Cardiovascular phenotype 2016-08-11 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.
GeneDx RCV000827152 SCV000968775 likely benign not provided 2018-05-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001089079 SCV001009625 likely benign Hypertrophic cardiomyopathy 2023-10-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003330844 SCV004038209 benign not specified 2023-08-19 criteria provided, single submitter clinical testing

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