ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1205A>G (p.Tyr402Cys)

gnomAD frequency: 0.00009  dbSNP: rs199798089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001507787 SCV001713558 uncertain significance not provided 2020-05-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002567977 SCV003521129 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 tyrosine with cysteine at codon 402 of the RAG2 protein (p.Tyr402Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs199798089, ExAC 0.09%). 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.

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