ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.82G>C (p.Val28Leu)

gnomAD frequency: 0.00031  dbSNP: rs142855305
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000731757 SCV000565080 uncertain significance not provided 2017-03-07 criteria provided, single submitter clinical testing The V28L variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V28L variant is observed in 16/9616 (0.17%) alleles from individuals of African American background in the ExAC dataset (Lek et al., 2016). The V28L variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species, and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V28L as a variant of uncertain significance.
Eurofins Ntd Llc (ga) RCV000731757 SCV000859607 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001425112 SCV001627726 likely benign Alagille syndrome due to a JAG1 point mutation 2022-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431387 SCV002679298 likely benign Cardiovascular phenotype 2021-09-24 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 RCV004551579 SCV004789691 likely benign JAG1-related disorder 2022-02-13 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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