ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.459C>T (p.Asp153=)

gnomAD frequency: 0.00029  dbSNP: rs376289528
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Total submissions: 8
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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 RCV000215911 SCV000270298 likely benign not specified 2015-03-04 criteria provided, single submitter clinical testing p.Asp153Asp in exon 3 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 been identified in 5/7406 African chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs376289528).
Invitae RCV000229870 SCV000287312 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001722157 SCV000516046 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336593 SCV002637649 likely benign Cardiovascular phenotype 2019-04-27 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.
Fulgent Genetics, Fulgent Genetics RCV000229870 SCV002811431 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2021-10-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000215911 SCV001919898 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001722157 SCV001951750 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001722157 SCV001969045 likely benign not provided no assertion criteria provided clinical testing

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