ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.326T>A (p.Val109Asp)

gnomAD frequency: 0.00002  dbSNP: rs201258007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001349510 SCV001543861 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces valine with aspartic acid at codon 109 of the RAG2 protein (p.Val109Asp). The valine residue is weakly conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs201258007, 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. RCV001831149 SCV002087174 uncertain significance Histiocytic medullary reticulosis 2020-10-08 no assertion criteria provided clinical testing

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