Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001976830 | SCV002267104 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-02-06 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs779337768, gnomAD 0.004%). This sequence change replaces glutamine, which is neutral and polar, with lysine, which is basic and polar, at codon 819 of the WDR19 protein (p.Gln819Lys). |
| Fulgent Genetics, |
RCV002479650 | SCV002790867 | uncertain significance | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2022-02-16 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003303556 | SCV004003447 | uncertain significance | Inborn genetic diseases | 2023-03-24 | criteria provided, single submitter | clinical testing | The c.2455C>A (p.Q819K) alteration is located in exon 22 (coding exon 22) of the WDR19 gene. This alteration results from a C to A substitution at nucleotide position 2455, causing the glutamine (Q) at amino acid position 819 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |