ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.400T>C (p.Leu134=)

gnomAD frequency: 0.00004  dbSNP: rs140511204
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248622 SCV000303030 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055029 SCV002364514 likely benign Alagille syndrome due to a JAG1 point mutation 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002356341 SCV002619608 likely benign Cardiovascular phenotype 2022-03-22 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.
Fulgent Genetics, Fulgent Genetics RCV002494701 SCV002794717 likely benign Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon; Charcot-Marie-Tooth disease, axonal, Type 2HH 2021-12-21 criteria provided, single submitter clinical testing

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