ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1794C>T (p.Val598=)

gnomAD frequency: 0.00001  dbSNP: rs200580391
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV001817381 SCV002065604 uncertain significance not specified 2017-12-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542528 SCV003294313 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004996020 SCV005598230 likely benign Cardiovascular phenotype 2024-07-14 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.

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