ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3567G>A (p.Thr1189=)

gnomAD frequency: 0.00009  dbSNP: rs373846021
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000841204 SCV000983162 likely benign not provided 2018-04-10 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001429077 SCV001631788 likely benign Alagille syndrome due to a JAG1 point mutation 2023-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453919 SCV002613141 likely benign Cardiovascular phenotype 2018-08-16 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 RCV002495201 SCV002796803 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 2021-10-22 criteria provided, single submitter clinical testing

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