ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met)

gnomAD frequency: 0.00001  dbSNP: rs587784557
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147960 SCV000195453 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2014-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850010 SCV002222056 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1187 of the WDR62 protein (p.Val1187Met). 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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 160290). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. This variant is present in population databases (rs587784557, gnomAD 0.01%).
Ambry Genetics RCV003162604 SCV003895187 uncertain significance Inborn genetic diseases 2023-01-24 criteria provided, single submitter clinical testing The c.3559G>A (p.V1187M) alteration is located in exon 30 (coding exon 30) of the WDR62 gene. This alteration results from a G to A substitution at nucleotide position 3559, causing the valine (V) at amino acid position 1187 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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