ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1851G>A (p.Ala617=)

gnomAD frequency: 0.00001  dbSNP: rs1031612674
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000432145 SCV000521743 likely benign not specified 2015-12-04 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062457 SCV002481082 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597797 SCV005092736 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing JUP: BP4, BP7
Ambry Genetics RCV005348115 SCV006019325 likely benign Cardiovascular phenotype 2025-01-10 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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