ClinVar Miner

Submissions for variant NM_018117.12(WDR11):c.2306T>G (p.Met769Arg)

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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 RCV003825076 SCV004620799 uncertain significance not provided 2024-06-18 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 769 of the WDR11 protein (p.Met769Arg). This variant is present in population databases (rs747083795, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with WDR11-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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