ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.915G>A (p.Pro305=)

gnomAD frequency: 0.00001  dbSNP: rs371165309
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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) RCV000731774 SCV000859624 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061005 SCV002396213 likely benign Alagille syndrome due to a JAG1 point mutation 2022-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303216 SCV003999981 likely benign Cardiovascular phenotype 2023-04-29 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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