ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.294C>G (p.Ser98=)

dbSNP: rs79338570
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729278 SCV000856925 uncertain significance not provided 2017-09-13 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001138323 SCV001298365 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001501679 SCV001706494 likely benign Alagille syndrome due to a JAG1 point mutation 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440568 SCV002750009 likely benign Cardiovascular phenotype 2022-06-14 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 RCV004547924 SCV004711765 likely benign JAG1-related disorder 2022-03-15 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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