ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.1212C>T (p.Ala404=)

gnomAD frequency: 0.00004  dbSNP: rs781376425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000621751 SCV000739963 likely benign Cardiovascular phenotype 2016-06-03 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001504424 SCV001709301 likely benign Hypertrophic cardiomyopathy 2023-11-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928036 SCV004741287 likely benign JPH2-related disorder 2020-11-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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