ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.101A>C (p.Gln34Pro)

dbSNP: rs1555830973
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546018 SCV000645522 uncertain significance Alagille syndrome due to a JAG1 point mutation 2017-07-10 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with JAG1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with proline at codon 34 of the JAG1 protein (p.Gln34Pro). The glutamine residue is highly conserved and there is a moderate physicochemical difference between glutamine and proline.
Eurofins Ntd Llc (ga) RCV000591855 SCV000706391 uncertain significance not provided 2017-02-20 criteria provided, single submitter clinical testing

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