Submissions for variant NM_002230.4(JUP):c.1365C>T (p.Ala455=)

gnomAD frequency: 0.00013  dbSNP: rs77375949

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150848	SCV000198401	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	p.Ala455Ala in Exon 08 of JUP: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 1/3738 African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs77375949).
GeneDx	RCV000150848	SCV000513313	benign	not specified	2015-05-05	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000867784	SCV001009046	benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2025-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002381467	SCV002702917	likely benign	Cardiovascular phenotype	2019-10-10	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001701686	SCV005879979	likely benign	not provided	2024-11-19	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000150848	SCV001926057	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701686	SCV001931856	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003952716	SCV004772412	likely benign	JUP-related disorder	2019-05-06	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).