ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1146C>T (p.Asn382=)

gnomAD frequency: 0.00011  dbSNP: rs200133928
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726436 SCV000344634 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
GeneDx RCV000346646 SCV000724415 likely benign not specified 2018-01-26 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.
Ambry Genetics RCV000621443 SCV000735791 likely benign Cardiovascular phenotype 2017-03-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001087114 SCV001007286 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000726436 SCV005042214 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing JAG1: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV004549621 SCV004777767 likely benign JAG1-related disorder 2021-05-04 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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