Submissions for variant NM_002230.4(JUP):c.2025T>C (p.His675=)

gnomAD frequency: 0.00259  dbSNP: rs140670556

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000154628	SCV000169890	benign	not specified	2013-09-24	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154628	SCV000204302	benign	not specified	2013-10-10	criteria provided, single submitter	clinical testing	His675His in Exon 12 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 1.0% (36/3738) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs140670556).
Invitae	RCV000233472	SCV000287310	benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-01-31	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000253125	SCV000318442	benign	Cardiovascular phenotype	2017-01-26	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769485	SCV000900880	likely benign	Cardiomyopathy	2015-11-05	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154628	SCV001362162	benign	not specified	2019-11-23	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001727589	SCV001471692	likely benign	not provided	2020-08-23	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000154628	SCV001744042	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000154628	SCV001919918	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000154628	SCV001931323	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001727589	SCV001971316	likely benign	not provided		no assertion criteria provided	clinical testing