Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001192909 | SCV001361362 | uncertain significance | not specified | 2019-12-11 | criteria provided, single submitter | clinical testing | Variant summary: WDR26 c.896G>A (p.Arg299Gln) results in a conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 250848 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.896G>A in individuals affected with Skraban-Deardorff syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Prevention |
RCV003396802 | SCV004105099 | likely pathogenic | WDR26-related disorder | 2023-08-09 | criteria provided, single submitter | clinical testing | The WDR26 c.896G>A variant is predicted to result in the amino acid substitution p.Arg299Gln. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant was observed to occur de novo in an individual undergoing genetic testing for intellectual disability at PreventionGenetics (internal data). Other de novo missense variants in WDR26 have been reported as causative for disease (Skraban et al. 2017. PubMed ID: 28686853). This variant is interpreted as likely pathogenic. |