ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.3074dup (p.Leu1025fs)

dbSNP: rs1564990390
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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 RCV001956054 SCV002240701 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2025-01-13 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the RAG1 gene (p.Leu1025Phefs*40). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the RAG1 protein and extend the protein by 20 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individuals with severe combined immunodeficiency or Omenn syndrome (PMID: 26476733, 28747913). This variant is also known as c.3198_3199insT (p.L1025FfsX39). ClinVar contains an entry for this variant (Variation ID: 1457784). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003475239 SCV004200509 likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2024-01-09 criteria provided, single submitter clinical testing

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