ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.66C>T (p.Tyr22=)

gnomAD frequency: 0.00003  dbSNP: rs782575179
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555536 SCV000645746 likely benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2023-09-05 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000605902 SCV000732002 likely benign not specified 2017-10-10 criteria provided, single submitter clinical testing p.Tyr22Tyr in exon 2 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and it is not located wi thin the splice consensus sequence. It has been identified in 8/275726 chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs782575179). ACMG/AMP Criteria applied: BP4, BP7 (Richards 2015).
GeneDx RCV001613361 SCV001837957 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002367885 SCV002664886 likely benign Cardiovascular phenotype 2017-03-23 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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