Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003065605 | SCV003458990 | uncertain significance | not provided | 2022-09-13 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 211 of the WDR73 protein (p.Pro211Leu). This variant is present in population databases (rs373626470, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with WDR73-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WDR73 protein function. 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 | RCV004071633 | SCV004978718 | uncertain significance | Inborn genetic diseases | 2023-12-27 | criteria provided, single submitter | clinical testing | The c.632C>T (p.P211L) alteration is located in exon 7 (coding exon 7) of the WDR73 gene. This alteration results from a C to T substitution at nucleotide position 632, causing the proline (P) at amino acid position 211 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005010949 | SCV005635415 | uncertain significance | Galloway-Mowat syndrome 1 | 2024-03-22 | criteria provided, single submitter | clinical testing |