ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.2193C>T (p.Asp731=)

gnomAD frequency: 0.00001  dbSNP: rs199683273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001447923 SCV001651003 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2025-01-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002432246 SCV002729444 likely benign Cardiovascular phenotype 2022-03-03 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.
Fulgent Genetics, Fulgent Genetics RCV001447923 SCV002794896 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-09 criteria provided, single submitter clinical testing

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