ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1989C>T (p.Arg663=)

gnomAD frequency: 0.00011  dbSNP: rs145175985
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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 RCV000154724 SCV000204404 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing p.Arg663Arg in exon 12 of JUP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3738 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS; dbSNP rs145175985).
GeneDx RCV001719959 SCV000515790 likely benign not provided 2019-11-08 criteria provided, single submitter clinical testing
Invitae RCV000645207 SCV000766949 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002415656 SCV002719098 likely benign Cardiovascular phenotype 2019-08-22 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.
PreventionGenetics, part of Exact Sciences RCV003945217 SCV004759408 likely benign JUP-related disorder 2024-01-10 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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