ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.894T>C (p.Asn298=)

gnomAD frequency: 0.00039  dbSNP: rs149897344
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000390030 SCV000338432 likely benign not specified 2018-06-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000294964 SCV000432933 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.
GeneDx RCV000390030 SCV000719023 likely benign not specified 2018-03-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000861980 SCV001002405 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374465 SCV002683651 likely benign Cardiovascular phenotype 2021-08-23 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000390030 SCV004030092 benign not specified 2023-07-29 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699421 SCV001924258 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001699421 SCV001974051 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004547697 SCV004724170 likely benign JAG1-related disorder 2019-08-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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