Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001867840 | SCV002131281 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2021-02-02 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs749621367, ExAC 0.03%). This sequence change replaces valine with glutamic acid at codon 817 of the WDR19 protein (p.Val817Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid. This variant has not been reported in the literature in individuals 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 disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. |
Fulgent Genetics, |
RCV002478174 | SCV002788109 | uncertain significance | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2022-03-31 | criteria provided, single submitter | clinical testing |