ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)

dbSNP: rs568867325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000804696 SCV000944617 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-10-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg332*) in the RAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 712 amino acid(s) of the RAG1 protein. This variant is present in population databases (rs568867325, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with severe combined immunodeficiency and Omenn syndrome (PMID: 20109747, 28747913). ClinVar contains an entry for this variant (Variation ID: 649706). This variant disrupts a region of the RAG1 protein in which other variant(s) (p.R959*) have been determined to be pathogenic (PMID: 11133745, 24290284, 24406074). 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 RCV003472380 SCV004200456 pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2024-03-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005047087 SCV005683457 pathogenic Combined immunodeficiency due to partial RAG1 deficiency; Combined immunodeficiency with skin granulomas; Histiocytic medullary reticulosis; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2024-03-29 criteria provided, single submitter clinical testing

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