ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.1468del (p.Gln490fs)

gnomAD frequency: 0.00001  dbSNP: rs886044119
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000323877 SCV000343526 likely pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518074 SCV003281086 pathogenic Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-05-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln501Lysfs*10) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with short rib polydactyly syndrome (PMID: 28400947). ClinVar contains an entry for this variant (Variation ID: 289210). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002518074 SCV005654957 likely pathogenic Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly 2024-05-16 criteria provided, single submitter clinical testing
OMIM RCV000578495 SCV000680476 pathogenic SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 2018-03-30 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851219 SCV000993470 likely pathogenic Short rib-polydactyly syndrome 2017-03-30 no assertion criteria provided research

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