ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.87C>T (p.Gly29=)

gnomAD frequency: 0.00001  dbSNP: rs199530395
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001438988 SCV001641869 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002377109 SCV002685172 likely benign Cardiovascular phenotype 2020-06-20 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001438988 SCV002806560 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-09-01 criteria provided, single submitter clinical testing

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