ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3611G>T (p.Gly1204Val)

gnomAD frequency: 0.00003  dbSNP: rs587784559
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147963 SCV000195456 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2013-10-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002514852 SCV003289946 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1204 of the WDR62 protein (p.Gly1204Val). This variant is present in population databases (rs587784559, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. ClinVar contains an entry for this variant (Variation ID: 160293). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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