ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2733G>C (p.Gln911His)

dbSNP: rs2133298067
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001360113 SCV001556013 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2020-02-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with RAG1-related conditions. This sequence change replaces glutamine with histidine at codon 911 of the RAG1 protein (p.Gln911His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine.

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