ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser)

gnomAD frequency: 0.00001  dbSNP: rs1051571820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001359315 SCV001555178 benign Alagille syndrome due to a JAG1 point mutation 2023-07-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486499 SCV002782254 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 2022-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004034526 SCV004889164 likely benign Cardiovascular phenotype 2024-01-29 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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