ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.375G>A (p.Ser125=)

dbSNP: rs111344340
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613220 SCV000728581 benign not specified 2017-07-17 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 RCV001505754 SCV001710663 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343153 SCV002623033 likely benign Cardiovascular phenotype 2020-03-25 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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