ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1806C>T (p.His602=)

gnomAD frequency: 0.00015  dbSNP: rs764290237
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000735117 SCV000863317 likely benign not specified 2018-09-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138224 SCV001298260 benign Isolated Nonsyndromic Congenital Heart Disease 2018-03-12 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 RCV001518631 SCV001727362 benign Alagille syndrome due to a JAG1 point mutation 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003165998 SCV003893174 likely benign Cardiovascular phenotype 2023-01-19 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.

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