ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.2390G>A (p.Arg797His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003727519 SCV004537516 uncertain significance not provided 2023-08-17 criteria provided, single submitter clinical testing This variant is present in population databases (rs778731385, gnomAD 0.07%). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with WDR11-related conditions. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 797 of the WDR11 protein (p.Arg797His).

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