ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.942C>T (p.Ala314=)

gnomAD frequency: 0.00001  dbSNP: rs782573436
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000441642 SCV000522986 likely benign not provided 2021-03-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001443924 SCV001646912 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-11-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446685 SCV002683159 likely benign Cardiovascular phenotype 2019-07-05 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.

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