Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001212275 | SCV001383855 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2019-09-09 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with WDR19-related conditions. This variant is present in population databases (rs767154492, ExAC 0.01%). This sequence change replaces glycine with valine at codon 1167 of the WDR19 protein (p.Gly1167Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. |
Ambry Genetics | RCV002561782 | SCV003658721 | uncertain significance | Inborn genetic diseases | 2022-11-03 | criteria provided, single submitter | clinical testing | The c.3500G>T (p.G1167V) alteration is located in exon 32 (coding exon 32) of the WDR19 gene. This alteration results from a G to T substitution at nucleotide position 3500, causing the glycine (G) at amino acid position 1167 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |