ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.133G>T (p.Val45Leu)

gnomAD frequency: 0.00054  dbSNP: rs183974372
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000303889 SCV000432959 likely benign 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Eurofins Ntd Llc (ga) RCV000597398 SCV000709460 benign not specified 2017-06-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000618886 SCV000736242 likely benign Cardiovascular phenotype 2016-06-24 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Invitae RCV000645022 SCV000766761 benign Alagille syndrome due to a JAG1 point mutation 2024-01-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000645022 SCV001528263 uncertain significance Alagille syndrome due to a JAG1 point mutation 2018-01-09 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001672588 SCV001883501 likely benign not provided 2018-07-27 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 31180159, 29707407, 30074189, 12297837, 20706826)

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