Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV002239569 | SCV002509031 | uncertain significance | Short-rib thoracic dysplasia 11 with or without polydactyly | 2024-02-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 330 of the WDR34 protein (p.Arg330Cys). This variant is present in population databases (rs200271161, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with WDR34-related conditions. ClinVar contains an entry for this variant (Variation ID: 1681213). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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 | RCV004047333 | SCV004859665 | uncertain significance | Inborn genetic diseases | 2023-12-17 | criteria provided, single submitter | clinical testing | The c.988C>T (p.R330C) alteration is located in exon 7 (coding exon 7) of the WDR34 gene. This alteration results from a C to T substitution at nucleotide position 988, causing the arginine (R) at amino acid position 330 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Institute of Human Genetics, |
RCV004816979 | SCV005071651 | uncertain significance | Retinal dystrophy | 2023-01-01 | no assertion criteria provided | clinical testing |