ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala)

gnomAD frequency: 0.00014  dbSNP: rs143966918
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000730936 SCV000574117 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing The V1156A variant in the JAG1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The V1156A variant is observed in 1/6614 (0.015%) alleles from individuals of Finnish background in the ExAC dataset (Lek et al., 2016). The V1156A 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 where amino acids with similar properties to Valine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret V1156A as a variant of uncertain significance.
Invitae RCV000687251 SCV000814808 likely benign Alagille syndrome due to a JAG1 point mutation 2023-12-25 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000730936 SCV000858703 uncertain significance not provided 2017-12-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765484 SCV000896779 uncertain significance Alagille syndrome due to a JAG1 point mutation; Tetralogy of Fallot; Deafness, congenital heart defects, and posterior embryotoxon 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000730936 SCV001962378 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing

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