ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2781C>T (p.Val927=)

gnomAD frequency: 0.00005  dbSNP: rs746664646
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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) RCV000313708 SCV000342435 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
Invitae RCV001089190 SCV001013763 benign Alagille syndrome due to a JAG1 point mutation 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436121 SCV002747277 benign Cardiovascular phenotype 2022-01-10 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: 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 RCV003920143 SCV004735308 likely benign JAG1-related condition 2022-01-18 criteria provided, single submitter 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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