Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Illumina Laboratory Services, |
RCV000263503 | SCV000449426 | uncertain significance | Jeune thoracic dystrophy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000297589 | SCV000449427 | uncertain significance | Cranioectodermal dysplasia | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001201954 | SCV001373049 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-08-09 | 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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 C45"). ClinVar contains an entry for this variant (Variation ID: 348750). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is present in population databases (rs545916111, gnomAD 0.07%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1121 of the WDR19 protein (p.Asn1121Ser). |
Genome Diagnostics Laboratory, |
RCV002278580 | SCV002567168 | uncertain significance | Connective tissue disorder | 2021-11-25 | criteria provided, single submitter | clinical testing |