ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.3563G>C (p.Gly1188Ala)

gnomAD frequency: 0.00001  dbSNP: rs766368457
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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 RCV001369312 SCV001565746 uncertain significance Alagille syndrome due to a JAG1 point mutation 2021-03-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 1188 of the JAG1 protein (p.Gly1188Ala). The glycine residue is moderately conserved and there is a small physicochemical difference between glycine and alanine. This variant is present in population databases (rs766368457, ExAC 0.001%). This variant has not been reported in the literature in individuals 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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