ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1971C>T (p.Asp657=)

gnomAD frequency: 0.00001  dbSNP: rs368661822
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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) RCV000728702 SCV000856307 uncertain significance not provided 2017-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002067089 SCV002425155 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002422625 SCV002718968 likely benign Cardiovascular phenotype 2022-08-16 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.
PreventionGenetics, part of Exact Sciences RCV004547921 SCV004708436 likely benign JAG1-related disorder 2021-05-07 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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