Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Biology Laboratory, |
RCV001281114 | SCV001425287 | likely pathogenic | Nephronophthisis 13 | 2020-02-01 | criteria provided, single submitter | research | |
Gene |
RCV001753491 | SCV001986103 | uncertain significance | not provided | 2019-05-08 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Identified in the heterozygous state in a patient with nonsyndromic retinitis pigmentosa, however, this individual was also homozygous for another variant in WDR19 (Coussa et al., 2013); This variant is associated with the following publications: (PMID: 23559409, 23683095, 31589614) |
Invitae | RCV001854543 | SCV002131144 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 493 of the WDR19 protein (p.Asp493His). This variant is present in population databases (rs587777349, gnomAD 0.0009%). This missense change has been observed in individuals with WDR19-related conditions (PMID: 23559409, 33532864; Invitae). ClinVar contains an entry for this variant (Variation ID: 127155). 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: "Benign"; Align-GVGD: "Class C15"). 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. |
OMIM | RCV000115011 | SCV000148920 | pathogenic | Senior-Loken syndrome 8 | 2013-08-01 | no assertion criteria provided | literature only |