ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.806C>T (p.Pro269Leu)

dbSNP: rs797044956
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190813 SCV000244254 uncertain significance Inborn genetic diseases 2014-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514092 SCV003443415 likely pathogenic Alagille syndrome due to a JAG1 point mutation 2024-12-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 269 of the JAG1 protein (p.Pro269Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Alagille syndrome (PMID: 12497640). ClinVar contains an entry for this variant (Variation ID: 208787). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt JAG1 protein function with a positive predictive value of 95%. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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