ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1381C>T (p.Arg461Ter)

gnomAD frequency: 0.00001  dbSNP: rs767751856
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693381 SCV000821248 pathogenic Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2017-12-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg472*) in the WDR35 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs767751856, ExAC 0.001%). This variant has not been reported in the literature in individuals with WDR35-related disease. Loss-of-function variants in WDR35 are known to be pathogenic (PMID: 21473986, 25908617). For these reasons, this variant has been classified as Pathogenic.

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