ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.358del (p.Val120fs)

dbSNP: rs1342428152
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001963293 SCV002242880 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-11-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val120Leufs*11) in the RAG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 408 amino acid(s) of the RAG2 protein. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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.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. This premature translational stop signal has been observed in individual(s) with clinical features of severe combined immunodeficiency (PMID: 21184155, 32888943).

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