ClinVar Miner

Submissions for variant NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) (rs200649783)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000755748 SCV000883280 likely pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly 2018-10-15 criteria provided, single submitter curation This variant is interpreted as Likely Pathogenic, for Short-rib thoracic dysplasia 7 with or without polydactyly, autosomal recessive. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM3 => For recessive disorders, detected in trans with a pathogenic variant (https://www.ncbi.nlm.nih.gov/pubmed/27158779) (https://www.ncbi.nlm.nih.gov/pubmed/28400947). PS3 => Well-established functional studies show a deleterious effect (https://www.ncbi.nlm.nih.gov/pubmed/28400947).
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286685 SCV001473297 likely pathogenic none provided 2020-03-03 criteria provided, single submitter clinical testing The WDR35 c.932G>T; p.Trp311Leu variant (rs200649783) is reported in the literature in the compound heterozygous state in individuals affected with short-rib polydactyly syndrome (Toriyama 2016, Zhang 2018). This variant is reported in ClinVar (Variation ID: 446644), and is only observed on six alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. The tryptophan at codon 311 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. References: Toriyama M et al. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016 Jun;48(6):648-56. Zhang W et al. Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Hum Mutat. 2018 Jan;39(1):152-166.
Dan Cohn Lab,University Of California Los Angeles RCV000516065 SCV000612056 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
OMIM RCV000578486 SCV000680475 pathogenic SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY 2018-04-02 no assertion criteria provided literature only
OMIM RCV000608080 SCV000713855 pathogenic Short-rib thoracic dysplasia 7/20 with polydactyly, digenic 2018-04-02 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000851218 SCV000993469 likely pathogenic Short Rib Polydactyly Syndrome 2017-03-30 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516065 SCV001479408 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research
Human Genetics - Radboudumc,Radboudumc RCV001353118 SCV001548279 likely pathogenic Cranioectodermal dysplasia 2 no assertion criteria provided research

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