Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001299515 | SCV001488610 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-03-12 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1003014). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 432 of the WDR19 protein (p.Ser432Gly). |
| Ambry Genetics | RCV003263931 | SCV003947403 | uncertain significance | Inborn genetic diseases | 2023-05-16 | criteria provided, single submitter | clinical testing | The c.1294A>G (p.S432G) alteration is located in exon 13 (coding exon 13) of the WDR19 gene. This alteration results from a A to G substitution at nucleotide position 1294, causing the serine (S) at amino acid position 432 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |