ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.547G>A (p.Glu183Lys) (rs1290478159)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617545 SCV000739634 uncertain significance Cardiovascular phenotype 2017-08-07 criteria provided, single submitter clinical testing Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient evidence
Invitae RCV000802297 SCV000942122 uncertain significance Shprintzen-Goldberg syndrome 2018-12-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 183 of the SKI protein (p.Glu183Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 520166). 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"). 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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