ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.1343G>A (p.Arg448Gln)

gnomAD frequency: 0.00018  dbSNP: rs144440500
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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 RCV000059798 SCV003259172 uncertain significance not provided 2023-12-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 448 of the WDR11 protein (p.Arg448Gln). This variant is present in population databases (rs144440500, gnomAD 0.03%). This missense change has been observed in individuals with idiopathic hypogonadotropic hypogonadism (PMID: 20887964; Invitae). ClinVar contains an entry for this variant (Variation ID: 68839). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Experimental studies have shown that this missense change affects WDR11 function (PMID: 29263200). This variant disrupts the p.Arg448 amino acid residue in WDR11. Other variant(s) that disrupt this residue have been observed in individuals with WDR11-related conditions (PMID: 20887964, 29419413), which suggests that this may be a clinically significant amino acid residue. 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 RCV000059798 SCV000091368 not provided not provided no assertion provided not provided

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