ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)

dbSNP: rs1413100202
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001229182 SCV001401620 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-06-15 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 472 of the RAG2 protein (p.Gly472Arg). This variant is present in population databases (no rsID available, gnomAD 0.006%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on RAG2 protein function. ClinVar contains an entry for this variant (Variation ID: 956389). This variant has not been reported in the literature in individuals affected with RAG2-related conditions.
Natera, Inc. RCV001833982 SCV002090377 uncertain significance Histiocytic medullary reticulosis 2021-05-21 no assertion criteria provided clinical testing

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