ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.519del (p.Glu174fs)

dbSNP: rs1241698978
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001855959 SCV002237775 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-08-29 criteria provided, single submitter clinical testing Experimental studies have shown that this premature translational stop signal affects RAG1 function (PMID: 24290284). For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This sequence change creates a premature translational stop signal (p.Glu174Serfs*27) in the RAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 870 amino acid(s) of the RAG1 protein. This variant is present in population databases (no rsID available, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with severe combined immunodeficiency (PMID: 10891452, 19011808, 24290284; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 631delT. ClinVar contains an entry for this variant (Variation ID: 624599).
Baylor Genetics RCV002279730 SCV004200488 pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2023-07-24 criteria provided, single submitter clinical testing
OMIM RCV002279728 SCV000034284 pathogenic Histiocytic medullary reticulosis 2005-11-01 no assertion criteria provided literature only
OMIM RCV002279729 SCV000034285 pathogenic Severe combined immunodeficiency, B cell-negative 2005-11-01 no assertion criteria provided literature only
OMIM RCV002279730 SCV000034286 pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2005-11-01 no assertion criteria provided literature only

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