ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.489C>T (p.Pro163=)

gnomAD frequency: 0.00002  dbSNP: rs376298235
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734572 SCV000862724 uncertain significance not provided 2018-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509596 SCV004270090 likely benign Alagille syndrome due to a JAG1 point mutation 2023-03-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004547939 SCV004713135 likely benign JAG1-related disorder 2021-06-24 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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