ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1150C>T (p.Pro384Ser)

dbSNP: rs1242691039
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313306 SCV001503798 uncertain significance Shprintzen-Goldberg syndrome 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 384 of the SKI protein (p.Pro384Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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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