Submissions for variant NM_002230.4(JUP):c.1959C>T (p.Ser653=)

gnomAD frequency: 0.00012  dbSNP: rs375451560

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000154725	SCV000204405	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ser653Ser in exon 12 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/7020 European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS). Ser653Ser in exon 12 of JUP (allele frequency = 1/7020) **
Ambry Genetics	RCV000251516	SCV000318304	likely benign	Cardiovascular phenotype	2017-09-07	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.
GeneDx	RCV000865141	SCV000527752	likely benign	not provided	2019-08-02	criteria provided, single submitter	clinical testing
Invitae	RCV001083868	SCV001006063	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-01-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001123567	SCV001282417	likely benign	Arrhythmogenic right ventricular dysplasia 12	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV001127667	SCV001287004	uncertain significance	Naxos disease	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149940	SCV003838886	likely benign	Cardiomyopathy	2021-11-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895056	SCV004721552	likely benign	JUP-related condition	2020-05-30	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV000154725	SCV002034682	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000865141	SCV002037411	likely benign	not provided		no assertion criteria provided	clinical testing