ClinVar Miner

Submissions for variant NM_000214.3(JAG1):c.1394G>A (p.Arg465Gln)

gnomAD frequency: 0.00001  dbSNP: rs558315798
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728708 SCV000856313 uncertain significance not provided 2017-08-11 criteria provided, single submitter clinical testing
Invitae RCV001862156 SCV002207662 uncertain significance Alagille syndrome due to a JAG1 point mutation 2023-09-27 criteria provided, single submitter clinical testing This variant is present in population databases (rs558315798, 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: 593612). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 465 of the JAG1 protein (p.Arg465Gln).

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