ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.486G>A (p.Ala162=) (rs113317262)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000247430 SCV000318034 benign Cardiovascular phenotype 2017-01-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
GeneDx RCV000039083 SCV000168904 benign not specified 2013-11-04 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.
Invitae RCV000555135 SCV000645740 likely benign Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 2017-10-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039083 SCV000062761 likely benign not specified 2011-12-13 criteria provided, single submitter clinical testing Ala162Ala in exon 4 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 detected in 4/7016 European American chromosomes from a racially unspecified clinical cohort that included individua ls with heart disease. rs113317262, http://evs.gs.washington.edu) Ala162Ala in exon 4 of JUP (rs113317262; allele frequency = 4/7016)

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