ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.568T>G (p.Tyr190Asp)

gnomAD frequency: 0.00001  dbSNP: rs1242543124
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001325760 SCV001516765 uncertain significance Alagille syndrome due to a JAG1 point mutation 2022-05-27 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1025447). This sequence change replaces tyrosine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 190 of the JAG1 protein (p.Tyr190Asp). This variant is present in population databases (no rsID available, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with JAG1-related conditions. 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 not expected to disrupt JAG1 protein function. 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.

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