ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1628G>A (p.Arg543His)

gnomAD frequency: 0.00016  dbSNP: rs544877858
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727161 SCV000706223 uncertain significance not provided 2017-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000593468 SCV000726108 likely benign not specified 2018-01-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001208418 SCV001379805 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962700 SCV004779478 likely benign JAG1-related condition 2023-04-05 criteria provided, single submitter 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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