Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003097612 | SCV003488948 | uncertain significance | not provided | 2022-08-08 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals affected with WDR73-related conditions. This variant is present in population databases (rs756843163, gnomAD 0.01%). This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 112 of the WDR73 protein (p.Gln112Glu). |
| Ambry Genetics | RCV003083053 | SCV003670160 | uncertain significance | Inborn genetic diseases | 2022-12-28 | criteria provided, single submitter | clinical testing | The c.334C>G (p.Q112E) alteration is located in exon 5 (coding exon 5) of the WDR73 gene. This alteration results from a C to G substitution at nucleotide position 334, causing the glutamine (Q) at amino acid position 112 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Fulgent Genetics, |
RCV005011005 | SCV005635431 | uncertain significance | Galloway-Mowat syndrome 1 | 2024-01-22 | criteria provided, single submitter | clinical testing |