ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3391G>A (p.Ala1131Thr)

gnomAD frequency: 0.00003  dbSNP: rs769242977
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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 RCV000645016 SCV000766755 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765485 SCV000896780 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 2018-10-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547815 SCV004118520 likely benign JAG1-related disorder 2024-01-30 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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