ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1941C>T (p.Ala647=)

gnomAD frequency: 0.00019  dbSNP: rs368865601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001720202 SCV000524796 likely benign not provided 2019-11-22 criteria provided, single submitter clinical testing
Invitae RCV001518156 SCV001726803 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002411339 SCV002720844 likely benign Cardiovascular phenotype 2021-08-24 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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