ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.898C>T (p.Arg300Cys)

gnomAD frequency: 0.00006  dbSNP: rs746253611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064712 SCV001229629 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 300 of the RAG2 protein (p.Arg300Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs746253611, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with RAG2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine 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.
Natera, Inc. RCV001273897 SCV001457491 uncertain significance Histiocytic medullary reticulosis 2020-03-10 no assertion criteria provided clinical testing

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