ClinVar Miner

Submissions for variant NM_001083961.2(WDR62):c.1487G>A (p.Arg496Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002621979 SCV002966562 uncertain significance not provided 2022-03-16 criteria provided, single submitter clinical testing 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with WDR62-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 496 of the WDR62 protein (p.Arg496Gln).
Institute of Human Genetics, University of Leipzig Medical Center RCV003493966 SCV004242491 likely pathogenic Microcephaly 2, primary, autosomal recessive, with or without cortical malformations 2024-07-05 criteria provided, single submitter clinical testing Criteria applied: PM2,PM5, PM3

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