ClinVar Miner

Submissions for variant NM_025132.4(WDR19):c.2365G>A (p.Gly789Ser)

gnomAD frequency: 0.00099  dbSNP: rs199904529
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000274698 SCV000340210 uncertain significance not provided 2016-03-22 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000274698 SCV000884901 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing The WDR19 c.2365G>A; p.Gly789Ser variant (rs199904529), to our knowledge, is not described in the medical literature but is reported as a variant of uncertain significance in ClinVar (Variation ID: 286677) and observed in the African population at an overall frequency of 0.26% (29/11240 alleles) in the Genome Aggregation Database. The glycine at codon 789 is highly conserved, and computational algorithms (PolyPhen-2, SIFT) predict that this variant is deleterious. 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 RCV001088018 SCV001098725 likely benign Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 2024-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002519251 SCV003724448 uncertain significance Inborn genetic diseases 2022-09-14 criteria provided, single submitter clinical testing The c.2365G>A (p.G789S) alteration is located in exon 21 (coding exon 21) of the WDR19 gene. This alteration results from a G to A substitution at nucleotide position 2365, causing the glycine (G) at amino acid position 789 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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