ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2298T>C (p.Phe766=)

gnomAD frequency: 0.00006  dbSNP: rs771544217
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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) RCV000324880 SCV000345564 uncertain significance not provided 2016-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002059305 SCV002416889 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021313 SCV005033404 likely benign Cardiovascular phenotype 2023-01-30 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 RCV004549626 SCV004783264 likely benign JAG1-related disorder 2021-08-02 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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