ClinVar Miner

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

gnomAD frequency: 0.00068  dbSNP: rs200266424
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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) 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV001089411 SCV001098726 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2025-01-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519250 SCV003724449 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.2671C>T (p.H891Y) alteration is located in exon 24 (coding exon 24) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 2671, causing the histidine (H) at amino acid position 891 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004734931 SCV005362479 uncertain significance WDR19-related disorder 2024-06-18 no assertion criteria provided clinical testing The WDR19 c.2671C>T variant is predicted to result in the amino acid substitution p.His891Tyr. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.26% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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