ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) (rs200266424)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000391331 SCV000340207 likely benign not specified 2016-04-08 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756917 SCV000884902 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The WDR19 c.2671C>T; p.His891Tyr variant (rs200266424), to our knowledge, is not described in the medical literature but is reported as likely benign by one laboratory in ClinVar (Variation ID: 286674) and observed in the African population at an overall frequency of 0.26% (62/23996 alleles) in the Genome Aggregation Database. The histidine at codon 891 is moderately conserved, but computational algorithms (PolyPhen-2, SIFT) predict that this variant is tolerated. Due to the lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty. Pathogenic WDR19 variants are inherited in an autosomal recessive manner, and are associated with cranioectodermal dysplasia (MIM: 614378), short-rib thoracic dysplasia (MIM: 614376), nephronophthisis (MIM: 614377), and Senior-Loken syndrome (MIM: 616307).
Invitae RCV001089411 SCV001098726 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2020-10-21 criteria provided, single submitter clinical testing

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