Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Department Of Translational Genomics |
RCV000171376 | SCV000221573 | likely pathogenic | not provided | criteria provided, single submitter | research | ||
| Invitae | RCV002515238 | SCV003262260 | uncertain significance | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2022-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 926 of the WDR19 protein (p.Ser926Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with retinitis pigmentosa and cone-rod dystrophy (PMID: 26355662). ClinVar contains an entry for this variant (Variation ID: 191190). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WDR19 protein function. 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. |
| Center for Genomic Medicine, |
RCV003989482 | SCV004806004 | uncertain significance | Nephronophthisis 13 | 2024-03-25 | criteria provided, single submitter | clinical testing |