ClinVar Miner

Submissions for variant NM_001379403.1(WDR26):c.2246_2249delinsTTTGTATAATGTT (p.His749_Gln750delinsLeuCysIleMetLeu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003397544 SCV004105564 uncertain significance WDR26-related disorder 2023-07-26 criteria provided, single submitter clinical testing The WDR26 c.1946_1949delinsTTTGTATAATGTT variant is predicted to result in an in-frame deletion and insertion. 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. To our knowledge, in-frame WDR26 deletions have not previously been reported as pathogenic, with the majority of variants causing premature termination (Skraban. 2017. PubMed ID: 28686853). While we suspect this variant is pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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