Submissions for variant NM_002230.4(JUP):c.1914C>T (p.Asn638=)

gnomAD frequency: 0.00004  dbSNP: rs368772249

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000215971	SCV000270295	likely benign	not specified	2014-12-18	criteria provided, single submitter	clinical testing	p.Asn638Asn in exon 11 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 1/8360 East Asian c hromosomes and 1/11158 Latino chromosomes by the Exome Aggregation Consortium (E xAC, http://exac.broadinstitute.org; dbSNP rs368772249).
Labcorp Genetics (formerly Invitae), Labcorp	RCV001490451	SCV001695014	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-05-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002408923	SCV002719994	likely benign	Cardiovascular phenotype	2019-08-10	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	RCV003907806	SCV004720294	likely benign	JUP-related disorder	2019-06-18	no assertion criteria provided	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).