ClinVar Miner

Submissions for variant NM_002230.4(JUP):c.546G>A (p.Ser182=)

gnomAD frequency: 0.00023  dbSNP: rs202038498
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Total submissions: 13
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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 RCV000220195 SCV000270299 likely benign not specified 2015-05-07 criteria provided, single submitter clinical testing p.Ser182Ser in exon 4 of JUP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 0.1% (10/8402) of Ea st Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs202038498).
Invitae RCV000230519 SCV000287315 benign Naxos disease; Arrhythmogenic right ventricular dysplasia 12 2024-01-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV000251485 SCV000318868 likely benign Cardiovascular phenotype 2017-04-28 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV000364561 SCV000402750 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.
Illumina Laboratory Services, Illumina RCV000272417 SCV000402751 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.
GeneDx RCV001529234 SCV000513309 likely benign not provided 2020-08-04 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000769496 SCV000900891 benign Cardiomyopathy 2021-09-13 criteria provided, single submitter clinical testing
Genetics and Genomics Program, Sidra Medicine RCV001293192 SCV001434190 likely benign Primary dilated cardiomyopathy criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000220195 SCV003801169 benign not specified 2023-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001529234 SCV004138340 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing JUP: BP4, BP7
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529234 SCV001742341 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000220195 SCV001917204 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529234 SCV001966520 likely benign not provided no assertion criteria provided clinical testing

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