ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.978G>A (p.Glu326=)

gnomAD frequency: 0.00001  dbSNP: rs1480738447
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001351249 SCV001545700 likely benign Alagille syndrome due to a JAG1 point mutation 2023-01-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499704 SCV002776234 uncertain significance 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 2022-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004629597 SCV005127505 likely benign Cardiovascular phenotype 2024-06-07 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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