ClinVar Miner

Submissions for variant NM_000536.4(RAG2):c.1403_1406del (p.His468fs)

dbSNP: rs786205616
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV000171462 SCV000221661 likely pathogenic not provided criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001852070 SCV002238386 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-07-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.His468Argfs*16) in the RAG2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the RAG2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with severe combined deficiency (PMID: 26915675). ClinVar contains an entry for this variant (Variation ID: 191271). 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.
Baylor Genetics RCV003474922 SCV004200550 pathogenic Combined immunodeficiency with skin granulomas 2023-05-16 criteria provided, single submitter clinical testing

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