ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2250C>T (p.Pro750=)

gnomAD frequency: 0.00003  dbSNP: rs368675736
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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 RCV001473829 SCV001677990 likely benign Alagille syndrome due to a JAG1 point mutation 2023-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506548 SCV002809545 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 2022-02-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004550229 SCV004782189 likely benign JAG1-related disorder 2020-11-30 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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