Submissions for variant NM_002230.4(JUP):c.297G>A (p.Ser99=)

gnomAD frequency: 0.00049  dbSNP: rs200976464

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039079	SCV000062757	likely benign	not specified	2015-12-04	criteria provided, single submitter	clinical testing	p.Ser99Ser in exon 3 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 individual with ARV C (Cox 2011) who had a second possibly pathogenic variant. It has also been iden tified in 0.1% (9/6588) of Latino chromosomes by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000476168	SCV000560965	benign	Naxos disease; Arrhythmogenic right ventricular dysplasia 12	2025-01-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000621188	SCV000735565	likely benign	Cardiovascular phenotype	2016-10-25	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.
Illumina Laboratory Services, Illumina	RCV001122177	SCV001280875	uncertain significance	Arrhythmogenic right ventricular dysplasia 12	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV001124950	SCV001283964	uncertain significance	Naxos disease	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
CeGaT Center for Human Genetics Tuebingen	RCV001311885	SCV001502239	likely benign	not provided	2020-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001311885	SCV001884239	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039079	SCV002014823	benign	not specified	2021-10-09	criteria provided, single submitter	clinical testing