ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.435C>T (p.Thr145=)

dbSNP: rs747879633
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253588 SCV000303031 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518568 SCV003325985 likely benign Alagille syndrome due to a JAG1 point mutation 2022-07-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020999 SCV005033036 likely benign Cardiovascular phenotype 2023-11-01 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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