ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1704C>T (p.Arg568=)

gnomAD frequency: 0.00001  dbSNP: rs144985667
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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) RCV000729542 SCV000857214 uncertain significance not provided 2017-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001862177 SCV002149503 likely benign Alagille syndrome due to a JAG1 point mutation 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002397506 SCV002710459 likely benign Cardiovascular phenotype 2022-04-19 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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