ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1527C>A (p.Phe509Leu)

gnomAD frequency: 0.00003  dbSNP: rs770377023
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000729751 SCV000857438 uncertain significance not provided 2018-05-10 criteria provided, single submitter clinical testing
Invitae RCV001245527 SCV001418821 uncertain significance Alagille syndrome due to a JAG1 point mutation 2023-11-01 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 509 of the JAG1 protein (p.Phe509Leu). This variant is present in population databases (rs770377023, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 594458). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt JAG1 protein function with a positive predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity Omics RCV000729751 SCV003813887 uncertain significance not provided 2019-10-18 criteria provided, single submitter clinical testing

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