Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000274698 | SCV000340210 | uncertain significance | not provided | 2016-03-22 | criteria provided, single submitter | clinical testing | |
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. |