ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2499G>A (p.Ala833=)

gnomAD frequency: 0.00002  dbSNP: rs201954371
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001501317 SCV001706124 likely benign Alagille syndrome due to a JAG1 point mutation 2023-07-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002424929 SCV002740930 likely benign Cardiovascular phenotype 2022-03-30 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.
Fulgent Genetics, Fulgent Genetics RCV002501724 SCV002804385 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 2021-12-30 criteria provided, single submitter clinical testing

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