Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001350457 | SCV001544857 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2020-05-05 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs565630355, ExAC 0.02%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with WDR19-related conditions. This sequence change replaces alanine with threonine at codon 356 of the WDR19 protein (p.Ala356Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. |
| ARUP Laboratories, |
RCV003738049 | SCV004563778 | uncertain significance | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | The WDR19 c.1066G>A; p.Ala356Thr variant (rs565630355), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 1045964). This variant is only observed on two alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses predict that this variant is neutral (REVEL: 0.013). Due to limited information, the clinical significance of this variant is uncertain at this time. |