ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2550C>T (p.His850=)

gnomAD frequency: 0.00003  dbSNP: rs777696420
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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 RCV001421936 SCV001624468 likely benign Alagille syndrome due to a JAG1 point mutation 2020-09-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003298713 SCV004001044 likely benign Cardiovascular phenotype 2023-05-15 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 RCV004550144 SCV004715083 likely benign JAG1-related disorder 2022-04-27 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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