ClinVar Miner

Submissions for variant NM_000448.3(RAG1):c.193G>T (p.Val65Phe)

gnomAD frequency: 0.00002  dbSNP: rs750032999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001341544 SCV001535423 uncertain significance Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces valine with phenylalanine at codon 65 of the RAG1 protein (p.Val65Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is present in population databases (rs750032999, ExAC 0.009%). This variant has not been reported in the literature in individuals affected with RAG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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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