Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002029775 | SCV002108199 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2021-07-24 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with WDR19-related conditions. 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 is present in population databases (rs773773910, ExAC 0.006%). This sequence change replaces glutamine with arginine at codon 339 of the WDR19 protein (p.Gln339Arg). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and arginine. |
Fulgent Genetics, |
RCV002506871 | SCV002815810 | uncertain significance | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2022-03-18 | criteria provided, single submitter | clinical testing |