ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.399G>A (p.Thr133=)

gnomAD frequency: 0.00024  dbSNP: rs763154396
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000423465 SCV000533034 likely benign not specified 2016-10-14 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 RCV000528720 SCV000645532 likely benign Alagille syndrome due to a JAG1 point mutation 2023-09-18 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732793 SCV000860779 uncertain significance not provided 2018-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV002374703 SCV002625041 likely benign Cardiovascular phenotype 2019-09-26 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003899887 SCV004711712 likely benign JAG1-related condition 2022-07-22 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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