Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001978789 | SCV002221359 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-06-27 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 1123 of the WDR19 protein (p.Arg1123Trp). This variant is present in population databases (rs369310189, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. 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. 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. |
| Ambry Genetics | RCV003339846 | SCV004059999 | uncertain significance | Inborn genetic diseases | 2023-07-19 | criteria provided, single submitter | clinical testing | The c.3367C>T (p.R1123W) alteration is located in exon 31 (coding exon 31) of the WDR19 gene. This alteration results from a C to T substitution at nucleotide position 3367, causing the arginine (R) at amino acid position 1123 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |