ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.136C>T (p.Gln46Ter)

gnomAD frequency: 0.00002  dbSNP: rs767788330
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001972131 SCV002209395 pathogenic Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2021-10-03 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with WDR35-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln46*) in the WDR35 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in WDR35 are known to be pathogenic (PMID: 22486404, 29068549).

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