ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.945C>T (p.Leu315=)

gnomAD frequency: 0.00004  dbSNP: rs146804895
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Total submissions: 5
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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 RCV000150851 SCV000198405 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing Leu315Leu in exon 6 of JUP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.1% (2/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs146804895).
Invitae RCV001400982 SCV001602793 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-08-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000150851 SCV001623235 benign not specified 2021-05-10 criteria provided, single submitter clinical testing
GeneDx RCV000461434 SCV001811504 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV002444615 SCV002683030 likely benign Cardiovascular phenotype 2022-09-28 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.

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