ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)

gnomAD frequency: 0.00001  dbSNP: rs748727021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547792 SCV000638117 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2022-04-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 463972). This variant has not been reported in the literature in individuals affected with RAG2-related conditions. This variant is present in population databases (rs748727021, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Glu199*) in the RAG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 329 amino acid(s) of the RAG2 protein. This variant disrupts a region of the RAG2 protein in which other variant(s) (p.Glu480*) have been determined to be pathogenic (PMID: 21624848, 29772310). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001834778 SCV002093614 pathogenic Histiocytic medullary reticulosis 2021-08-02 no assertion criteria provided clinical testing

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