ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.1848C>G (p.Ile616Met)

dbSNP: rs1044806468
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552281 SCV000637288 uncertain significance Shprintzen-Goldberg syndrome 2017-05-02 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SKI-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This sequence change replaces isoleucine with methionine at codon 616 of the SKI protein (p.Ile616Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine.

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