ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.2765G>A (p.Arg922His)

gnomAD frequency: 0.00007  dbSNP: rs749718711
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV004799436 SCV001432924 uncertain significance Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2022-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001567229 SCV001790879 uncertain significance not provided 2020-10-23 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003263913 SCV003948713 likely benign Inborn genetic diseases 2024-09-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001567229 SCV005727856 uncertain significance not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 922 of the WDR62 protein (p.Arg922His). This variant is present in population databases (rs749718711, 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: 978178). 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 with a negative predictive value of 80%. 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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