ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.2979C>T (p.Ser993=)

gnomAD frequency: 0.00016  dbSNP: rs542976402
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001138545 SCV001298606 uncertain significance Isolated Nonsyndromic Congenital Heart Disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV001488813 SCV001693338 likely benign Alagille syndrome due to a JAG1 point mutation 2022-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436721 SCV002751376 likely benign Cardiovascular phenotype 2022-04-20 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 RCV003898135 SCV004712022 likely benign JAG1-related condition 2021-09-03 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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