Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002572938 | SCV002932328 | uncertain significance | not provided | 2022-08-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with WDR73-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 161 of the WDR73 protein (p.Val161Ile). This variant is present in population databases (rs368793393, gnomAD 0.007%). 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. 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 | RCV003164805 | SCV003892471 | uncertain significance | Inborn genetic diseases | 2023-01-18 | criteria provided, single submitter | clinical testing | The c.481G>A (p.V161I) alteration is located in exon 6 (coding exon 6) of the WDR73 gene. This alteration results from a G to A substitution at nucleotide position 481, causing the valine (V) at amino acid position 161 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005008623 | SCV005635423 | uncertain significance | Galloway-Mowat syndrome 1 | 2024-06-05 | criteria provided, single submitter | clinical testing |