ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.2165G>T (p.Gly722Val)

dbSNP: rs1488554459
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559446 SCV000637297 uncertain significance Shprintzen-Goldberg syndrome 2019-11-28 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. 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. 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 a SKI-related disease. This sequence change replaces glycine with valine at codon 722 of the SKI protein (p.Gly722Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine.
GeneDx RCV001755830 SCV001996133 uncertain significance not provided 2023-06-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function

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