ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.102del (p.Gly35fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003791901 SCV004586805 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-07-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RAG2 protein in which other variant(s) (p.Arg148*) have been determined to be pathogenic (PMID: 11133745, 28600779, 30307608). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This variant has not been reported in the literature in individuals affected with RAG2-related conditions. This variant is present in population databases (rs746734641, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Gly35Alafs*16) in the RAG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 493 amino acid(s) of the RAG2 protein.

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