Submissions for variant NM_003036.4(SKI):c.1400C>T (p.Thr467Met) (rs752151031)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000697378	SCV000825985	uncertain significance	Shprintzen-Goldberg syndrome	2018-04-30	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with methionine at codon 467 of the SKI protein (p.Thr467Met). The threonine residue is weakly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs752151031, ExAC 0.006%). This variant has not been reported in the literature in individuals with SKI-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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