ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2073T>C (p.Cys691=)

gnomAD frequency: 0.00019  dbSNP: rs200648035
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000306772 SCV000343915 benign not specified 2016-07-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000291006 SCV000432913 benign Isolated Nonsyndromic Congenital Heart 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000525761 SCV000645526 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001683165 SCV001897818 likely benign not provided 2018-07-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002418131 SCV002727719 likely benign Cardiovascular phenotype 2022-02-20 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.
Fulgent Genetics, Fulgent Genetics RCV002502149 SCV002811280 likely benign Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2021-09-17 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000306772 SCV001925312 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001683165 SCV001964779 likely benign not provided no assertion criteria provided clinical testing

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