Submissions for variant NM_002230.4(JUP):c.958C>T (p.Arg320Cys)

gnomAD frequency: 0.00007  dbSNP: rs200740462

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000183511	SCV000235971	uncertain significance	not provided	2024-08-13	criteria provided, single submitter	clinical testing	Reported in a Chinese adult individual with sudden unexplained nocturnal death syndrome (SUNDS) (PMID: 27707468); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29502107, 27707468)
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085979	SCV001008051	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-01-29	criteria provided, single submitter	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000183511	SCV002541403	uncertain significance	not provided	2021-09-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004020221	SCV005018062	benign	Cardiovascular phenotype	2024-02-02	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000183511	SCV001979334	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000183511	SCV001979966	uncertain significance	not provided		no assertion criteria provided	clinical testing
Cardiology, Hunan Children’s Hospital	RCV003225037	SCV002588753	likely pathogenic	Arrhythmogenic right ventricular dysplasia 12	2022-10-20	no assertion criteria provided	clinical testing	The JUP gene is found on chromosome 17q21, which is located at desmosomes and adhesive junctions between cells. In this study, we identified a that pediatric patient with ARVC had a missense mutation, c.958C>T (p.R320C), in JUP via genetic testing and Sanger sequencing and performed computational prediction using online computational prediction tools to confirm the pathogenicity of c.958C>T.