ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.994C>T (p.Arg332Ter) (rs568867325)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804696 SCV000944617 pathogenic Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2018-08-28 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the RAG1 gene (p.Arg332*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 712 amino acids of the RAG1 protein. This variant is present in population databases (rs568867325, ExAC 0.003%). This variant has been observed in several individuals affected with SCID and Omenn syndrome (PMID: 20109747, 28747913). A different truncation (p.R959*) that lies downstream of this variant has been determined to be pathogenic (PMID: 11133745, 24290284, 24406074). This suggests that deletion of this region of the RAG1 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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