ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.522G>A (p.Thr174=)

gnomAD frequency: 0.00004  dbSNP: rs751230029
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001441173 SCV001644092 likely benign Alagille syndrome due to a JAG1 point mutation 2020-10-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004549955 SCV004780861 likely benign JAG1-related disorder 2021-03-22 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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