ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3525G>A (p.Ala1175=)

gnomAD frequency: 0.00003  dbSNP: rs745431482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617270 SCV000735975 likely benign Cardiovascular phenotype 2017-07-26 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 RCV002060663 SCV002431048 likely benign Alagille syndrome due to a JAG1 point mutation 2023-09-17 criteria provided, single submitter clinical testing

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