ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1192C>T (p.Pro398Ser)

dbSNP: rs1640476669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001534678 SCV001751616 uncertain significance not provided 2021-01-25 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 supports that this missense variant does not alter protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV002568224 SCV002967486 uncertain significance Shprintzen-Goldberg syndrome 2022-01-20 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1178400). This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 398 of the SKI protein (p.Pro398Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SKI-related conditions.

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