Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001911034 | SCV002164333 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-07-05 | 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 1391596). This variant has not been reported in the literature in individuals affected with WDR19-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with tyrosine, which is neutral and polar, at codon 98 of the WDR19 protein (p.Asp98Tyr). |
| Prevention |
RCV004529036 | SCV004112695 | uncertain significance | WDR19-related disorder | 2023-07-19 | criteria provided, single submitter | clinical testing | The WDR19 c.292G>T variant is predicted to result in the amino acid substitution p.Asp98Tyr. This variant has been reported in the homozygous state in a patient with nephronophthisis (Doreille et al. 2021. PubMed ID: 33268504). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |