Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001235073 | SCV001407738 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2019-08-13 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with alanine at codon 831 of the WDR19 protein (p.Val831Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. 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 alanine 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 variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV002563821 | SCV003713879 | uncertain significance | Inborn genetic diseases | 2021-07-27 | criteria provided, single submitter | clinical testing | The c.2492T>C (p.V831A) alteration is located in exon 22 (coding exon 22) of the WDR19 gene. This alteration results from a T to C substitution at nucleotide position 2492, causing the valine (V) at amino acid position 831 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |