ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.744A>G (p.Pro248=)

gnomAD frequency: 0.06947  dbSNP: rs10485741
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Total submissions: 10
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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 RCV000035337 SCV000058985 benign not specified 2010-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000035337 SCV000303035 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000335827 SCV000432940 benign Isolated Nonsyndromic Congenital Heart 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 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.
Ambry Genetics RCV000618285 SCV000735005 benign Cardiovascular phenotype 2015-06-12 criteria provided, single submitter clinical testing This alteration is classified as 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001513157 SCV001720706 benign Alagille syndrome due to a JAG1 point mutation 2025-02-03 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000035337 SCV003928854 benign not specified 2023-04-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001723604 SCV005312348 benign not provided criteria provided, single submitter not provided
Clinical Genetics, Academic Medical Center RCV000035337 SCV001918532 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001723604 SCV001956151 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000035337 SCV001969664 benign not specified no assertion criteria provided clinical testing

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