ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1215C>G (p.Phe405Leu)

dbSNP: rs2100918174
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571900 SCV001796457 uncertain significance not provided 2020-01-23 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Invitae RCV001866035 SCV002268067 uncertain significance Shprintzen-Goldberg syndrome 2021-06-19 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with SKI-related conditions. 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 is not present in population databases (ExAC no frequency). This sequence change replaces phenylalanine with leucine at codon 405 of the SKI protein (p.Phe405Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine.

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