ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.1942G>A (p.Val648Ile)

gnomAD frequency: 0.00760  dbSNP: rs143043662
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Total submissions: 20
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section, National Institutes of Health RCV000039072 SCV000051545 benign not specified 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039072 SCV000062750 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Val648Ile in exon 12 of JUP: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (98/6744) of European (Finnish) chromosomes and 1.1% (760/67702) of European (Non-Finnish) chromosomes by the E xome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs14304 3662).
Invitae RCV001081355 SCV000287309 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-02-01 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000039072 SCV000313864 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV000248914 SCV000318647 benign Cardiovascular phenotype 2015-05-11 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514183 SCV000609669 likely benign not provided 2017-03-17 criteria provided, single submitter clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000039072 SCV000740580 likely benign not specified 2017-03-28 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769487 SCV000900882 benign Cardiomyopathy 2018-11-12 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852718 SCV000995432 benign Cardiomyopathy; Hypertrophic cardiomyopathy 2018-03-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000514183 SCV001159241 benign not provided 2022-04-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001123568 SCV001282418 likely benign 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 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.
Illumina Laboratory Services, Illumina RCV001123569 SCV001282419 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.
GeneDx RCV000514183 SCV001757449 benign not provided 2015-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24704780)
CeGaT Center for Human Genetics Tuebingen RCV000514183 SCV004009787 benign not provided 2023-06-01 criteria provided, single submitter clinical testing JUP: BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000514183 SCV001742360 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000514183 SCV001800473 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000039072 SCV001924778 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000039072 SCV001932175 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000039072 SCV001955631 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039072 SCV001968625 benign not specified no assertion criteria provided clinical testing

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