ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys)

gnomAD frequency: 0.00003  dbSNP: rs377569152
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066261 SCV001231268 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 383 of the RAG2 protein (p.Glu383Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs377569152, ExAC 0.003%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. RCV001833641 SCV002090455 uncertain significance Histiocytic medullary reticulosis 2021-07-01 no assertion criteria provided clinical testing

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