ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.142A>C (p.Lys48Gln) (rs946543006)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498045 SCV000590265 uncertain significance not provided 2017-06-05 criteria provided, single submitter clinical testing The K48Q variant in the SKI gene has not been published as pathogenic or been reported as benign to our knowledge. No data are available from ethnically-matched control populations to assess the frequency of this variant. The K48Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties, and occurs at a position that is conserved in mammals. Nevertheless, in silico analysis predicts this variant likely does not alter the protein structure/function.
Invitae RCV000557338 SCV000637280 uncertain significance Shprintzen-Goldberg syndrome 2017-07-06 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 48 of the SKI protein (p.Lys48Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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.
Fulgent Genetics,Fulgent Genetics RCV000557338 SCV000896265 uncertain significance Shprintzen-Goldberg syndrome 2018-10-31 criteria provided, single submitter clinical testing

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