ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.1630C>A (p.Leu544Ile)

gnomAD frequency: 0.00003  dbSNP: rs773829381
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228514 SCV001400915 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2019-07-18 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 544 of the RAG1 protein (p.Leu544Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is present in population databases (rs773829381, ExAC 0.02%). This variant has not been reported in the literature in individuals with RAG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV004774326 SCV005386612 uncertain significance not provided 2024-01-11 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27825771, 24290284, 26996199)

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