ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2043G>A (p.Thr681=)

gnomAD frequency: 0.00029  dbSNP: rs151291264
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596723 SCV000705729 uncertain significance not provided 2018-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618168 SCV000735612 likely benign Cardiovascular phenotype 2016-11-10 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 RCV001089168 SCV001005940 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-06 criteria provided, single submitter clinical testing

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