ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1346G>C (p.Cys449Ser)

dbSNP: rs2100918643
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001968326 SCV002239370 uncertain significance Shprintzen-Goldberg syndrome 2021-10-09 criteria provided, single submitter clinical testing This sequence change replaces cysteine with serine at codon 449 of the SKI protein (p.Cys449Ser). The cysteine residue is weakly conserved and there is a moderate physicochemical difference between cysteine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SKI-related conditions. 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. 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.

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