ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.791AGA[1] (p.Lys265del)

dbSNP: rs766378998
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001240968 SCV001413956 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-11-01 criteria provided, single submitter clinical testing This variant, c.794_796del, results in the deletion of 1 amino acid(s) of the RAG1 protein (p.Lys265del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs766378998, gnomAD 0.08%). This variant has not been reported in the literature in individuals affected with RAG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 966319). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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