ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter)

dbSNP: rs104894282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003473088 SCV004200469 likely pathogenic Combined immunodeficiency due to partial RAG1 deficiency 2023-09-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003764568 SCV004570764 pathogenic Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2023-07-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RAG1 protein in which other variant(s) (p.Trp959*) 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. ClinVar contains an entry for this variant (Variation ID: 13140). This premature translational stop signal has been observed in individual(s) with severe combined immunodeficiency (PMID: 8810255). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu774*) in the RAG1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 270 amino acid(s) of the RAG1 protein.
Fulgent Genetics, Fulgent Genetics RCV005042041 SCV005683486 likely 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 2024-04-10 criteria provided, single submitter clinical testing
OMIM RCV000014022 SCV000034269 pathogenic Severe combined immunodeficiency, B cell-negative 1996-10-04 no assertion criteria provided literature only

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