ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1335G>A (p.Gln445=)

gnomAD frequency: 0.00009  dbSNP: rs759545669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000593319 SCV000706890 uncertain significance not provided 2017-03-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001437665 SCV001640525 likely benign Alagille syndrome due to a JAG1 point mutation 2023-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002384301 SCV002692630 likely benign Cardiovascular phenotype 2022-02-17 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.
PreventionGenetics, part of Exact Sciences RCV004740356 SCV005359042 likely benign JAG1-related disorder 2024-08-05 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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