ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1563A>G (p.Ala521=)

gnomAD frequency: 0.00753  dbSNP: rs149926974
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039066 SCV000062744 benign not specified 2012-05-10 criteria provided, single submitter clinical testing Ala521Ala in Exon 09 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 0.4% (29/7018) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs149926974).
Invitae RCV000230244 SCV000287306 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000244640 SCV000318849 benign Cardiovascular phenotype 2015-10-02 criteria provided, single submitter clinical testing This alteration is classified as 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.
Illumina Laboratory Services, Illumina RCV000263093 SCV000402728 uncertain significance Naxos disease 2018-01-12 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 RCV000329892 SCV000402729 likely benign Arrhythmogenic right ventricular dysplasia 12 2018-01-12 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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769489 SCV000900884 benign Cardiomyopathy 2016-06-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001528990 SCV001473203 benign not provided 2023-08-24 criteria provided, single submitter clinical testing
GeneDx RCV001528990 SCV001898066 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001528990 SCV002498272 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing JUP: BP4, BP7, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528990 SCV001741687 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000039066 SCV001919794 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000039066 SCV001928017 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039066 SCV001951767 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528990 SCV001966125 likely benign not provided no assertion criteria provided clinical testing

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