ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.278C>T (p.Pro93Leu)

dbSNP: rs749071609
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002030481 SCV002269418 uncertain significance Shprintzen-Goldberg syndrome 2021-03-07 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 expected to disrupt SKI protein function. This variant has not been reported in the literature in individuals with SKI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces proline with leucine at codon 93 of the SKI protein (p.Pro93Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine.

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