Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000796755 | SCV000936281 | uncertain significance | Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly | 2023-08-24 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs772365561, gnomAD 0.1%). This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 4 of the WDR35 protein (p.Tyr4His). 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. 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 expected to disrupt WDR35 protein function. ClinVar contains an entry for this variant (Variation ID: 643121). This variant has not been reported in the literature in individuals affected with WDR35-related conditions. |
| Ambry Genetics | RCV003353026 | SCV004073503 | uncertain significance | Inborn genetic diseases | 2023-09-13 | criteria provided, single submitter | clinical testing | The c.10T>C (p.Y4H) alteration is located in exon 1 (coding exon 1) of the WDR35 gene. This alteration results from a T to C substitution at nucleotide position 10, causing the tyrosine (Y) at amino acid position 4 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |