ClinVar Miner

Submissions for variant NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val)

gnomAD frequency: 0.00001  dbSNP: rs917453243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002246895 SCV002516750 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738164 SCV004558056 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1686382). 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. 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 valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with WDR87-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 1722 of the WDR87 protein (p.Glu1722Val).

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