ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.332C>T (p.Ala111Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003065773 SCV003458124 likely benign Alagille syndrome due to a JAG1 point mutation 2023-05-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004071643 SCV004889162 likely benign Cardiovascular phenotype 2024-01-24 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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