ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1299C>T (p.Ser433=)

gnomAD frequency: 0.00003  dbSNP: rs376345105
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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 RCV001418272 SCV001620497 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV004994077 SCV005601712 likely benign Cardiovascular phenotype 2024-10-22 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.
PreventionGenetics, part of Exact Sciences RCV003938243 SCV004748003 likely benign JUP-related disorder 2019-03-08 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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