Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001314056 | SCV001504571 | uncertain significance | Shprintzen-Goldberg syndrome | 2020-08-20 | 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. 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 SKI protein function. This variant has not been reported in the literature in individuals with SKI-related conditions. This variant is present in population databases (rs761138564, ExAC 0.02%). This sequence change replaces alanine with proline at codon 208 of the SKI protein (p.Ala208Pro). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and proline. |
| Gene |
RCV004815338 | SCV005439189 | uncertain significance | not provided | 2024-06-23 | criteria provided, single submitter | clinical testing | Identified in a patient with cranioectodermal dysplasia (CED, also known as Sensenbrenner syndrome) who also harbored compound heterozygous variants in the WDR35 gene; the SKI variant was not thought to be related to the reported syndrome by the authors (PMID: 24123776); In silico analysis indicates that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 24123776) |