ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.119C>A (p.Ser40Tyr)

gnomAD frequency: 0.00002  dbSNP: rs762460908
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001874700 SCV002137090 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2022-11-28 criteria provided, single submitter clinical testing 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) performed at Invitae indicates that this missense variant is expected to disrupt RAG2 protein function. ClinVar contains an entry for this variant (Variation ID: 1369588). This variant has not been reported in the literature in individuals affected with RAG2-related conditions. This variant is present in population databases (rs762460908, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 40 of the RAG2 protein (p.Ser40Tyr).

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