ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.347G>A (p.Gly116Glu) (rs387907303)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000030816 SCV000266519 pathogenic Shprintzen-Goldberg syndrome criteria provided, single submitter research
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV001196205 SCV001366746 likely pathogenic Hypertelorism; Clubfoot; Micrognathia; High palate; Hypoplasia of the corpus callosum 2019-05-27 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP2,PP3. This variant was detected in heterozygous state.
Invitae RCV000030816 SCV001375519 pathogenic Shprintzen-Goldberg syndrome 2019-07-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 116 of the SKI protein (p.Gly116Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in individuals affected with Shprintzen-Goldberg syndrome (PMID: 23023332, 24357594). ClinVar contains an entry for this variant (Variation ID: 37258). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000030816 SCV000053491 pathogenic Shprintzen-Goldberg syndrome 2012-11-01 no assertion criteria provided literature only

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