Submissions for variant NM_002230.4(JUP):c.2059A>G (p.Ile687Val)

gnomAD frequency: 0.00074  dbSNP: rs138366708

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039074	SCV000062752	benign	not specified	2012-12-06	criteria provided, single submitter	clinical testing	Ile687Val in exon 13 of JUP: This variant is not expected to have clinical signi ficance because it has been identified in 4.2% (8/192) of Kenyan chromosomes fro m a broad population by the 1000 Genomes project (dbSNP rs138366708).
GeneDx	RCV001719757	SCV000513316	likely benign	not provided	2020-10-06	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000534009	SCV000645730	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2025-01-30	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852717	SCV000995431	benign	Cardiomyopathy; Hypertrophic cardiomyopathy	2019-03-15	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000534009	SCV002801576	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2021-09-24	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039074	SCV005203369	likely benign	not specified	2024-07-21	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001719757	SCV005212745	likely benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001719757	SCV005876399	likely benign	not provided	2023-12-07	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039074	SCV001924233	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001719757	SCV001970889	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003904934	SCV004718587	likely benign	JUP-related disorder	2023-10-19	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).