ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.351C>T (p.Ala117=)

gnomAD frequency: 0.00002  dbSNP: rs397517300
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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 RCV000039080 SCV000062758 likely benign not specified 2012-04-11 criteria provided, single submitter clinical testing Ala117Ala in exon 3 of JUP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and it is not located wit hin the splice consensus sequence. Ala117Ala in exon 3 of JUP (allele frequenc y = n/a)
Labcorp Genetics (formerly Invitae), Labcorp RCV001454132 SCV001657844 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-10-04 criteria provided, single submitter clinical testing
GeneDx RCV001534116 SCV001751014 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453320 SCV002613241 likely benign Cardiovascular phenotype 2019-08-16 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.

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