Submissions for variant NM_002230.4(JUP):c.486G>A (p.Ala162=)

gnomAD frequency: 0.00026  dbSNP: rs113317262

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039083	SCV000062761	likely benign	not specified	2011-12-13	criteria provided, single submitter	clinical testing	Ala162Ala in exon 4 of JUP: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been detected in 4/7016 European American chromosomes from a racially unspecified clinical cohort that included individua ls with heart disease. rs113317262, http://evs.gs.washington.edu) Ala162Ala in exon 4 of JUP (rs113317262; allele frequency = 4/7016)
GeneDx	RCV000039083	SCV000168904	benign	not specified	2013-11-04	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.
Ambry Genetics	RCV000247430	SCV000318034	benign	Cardiovascular phenotype	2017-01-13	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000555135	SCV000645740	likely benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001125828	SCV001284943	uncertain significance	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 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	RCV001127938	SCV001287301	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039083	SCV001338619	benign	not specified	2020-04-04	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039083	SCV001925137	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001725951	SCV001962723	likely benign	not provided		no assertion criteria provided	clinical testing