Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003631384 | SCV004375248 | uncertain significance | Shprintzen-Goldberg syndrome | 2023-08-19 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 64 of the SKI protein (p.Val64Ser). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with SKI-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |