ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.589G>A (p.Val197Ile)

gnomAD frequency: 0.00004  dbSNP: rs535488873
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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 RCV000147977 SCV000195471 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001850012 SCV002317997 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 197 of the WDR62 protein (p.Val197Ile). This variant is present in population databases (rs535488873, gnomAD 0.2%). 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: 160306). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WDR62 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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