ClinVar Miner

Submissions for variant NM_000448.2(RAG1):c.1361T>A (p.Leu454Gln) (rs199474677)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000819860 SCV000960543 uncertain significance Combined cellular and humoral immune defects with granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2018-08-06 criteria provided, single submitter clinical testing This sequence change replaces leucine with glutamine at codon 454 of the RAG1 protein (p.Leu454Gln). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Omenn syndrome (PMID: 21624848). ClinVar contains an entry for this variant (Variation ID: 68682). Experimental studies have shown that this missense change reduces VDJ recombination activity (PMID: 24290284). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UniProtKB/Swiss-Prot RCV000059563 SCV000091095 not provided not provided no assertion provided not provided

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