ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.762C>T (p.Leu254=)

gnomAD frequency: 0.00006  dbSNP: rs781805854
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213772 SCV000270300 likely benign not specified 2015-04-13 criteria provided, single submitter clinical testing p.Leu254Leu in exon 5 of JUP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has also been identified in 1/66558 of Euro pean chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadins titute.org).
Ambry Genetics RCV000621685 SCV000737755 likely benign Cardiovascular phenotype 2016-10-14 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.
Invitae RCV001494686 SCV001699348 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2022-10-17 criteria provided, single submitter clinical testing
GeneDx RCV001636730 SCV001849320 benign not provided 2015-03-06 criteria provided, single submitter clinical testing

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