ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2049C>T (p.Arg683=)

gnomAD frequency: 0.00002  dbSNP: rs1389234825
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002422852 SCV002728164 likely benign Cardiovascular phenotype 2018-04-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002541283 SCV003462505 likely benign Alagille syndrome due to a JAG1 point mutation 2022-05-17 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001794987 SCV002034165 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001794987 SCV002038084 likely benign not provided no assertion criteria provided clinical testing

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