Submissions for variant NM_002230.4(JUP):c.1807G>T (p.Val603Leu)

gnomAD frequency: 0.00038  dbSNP: rs200327969

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001719986	SCV000235972	likely benign	not provided	2020-01-08	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27037756, 20864495, 31402444)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000645215	SCV000766957	benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-01-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001124648	SCV001283631	uncertain significance	Naxos disease	2017-04-28	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.
Illumina Laboratory Services, Illumina	RCV001124649	SCV001283632	uncertain significance	Arrhythmogenic right ventricular dysplasia 12	2017-04-28	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002408705	SCV002713993	likely benign	Cardiovascular phenotype	2021-02-17	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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003149960	SCV003838225	benign	Cardiomyopathy	2021-11-25	criteria provided, single submitter	clinical testing
Blueprint Genetics	RCV000157251	SCV000206981	uncertain significance	Ventricular fibrillation, paroxysmal familial, type 1	2014-09-24	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003965172	SCV004778118	likely benign	JUP-related disorder	2023-10-24	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).