ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.352G>A (p.Glu118Lys)

dbSNP: rs869025525
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208203 SCV000264224 likely pathogenic Shprintzen-Goldberg syndrome 2015-10-22 criteria provided, single submitter clinical testing
Invitae RCV000208203 SCV002169985 uncertain significance Shprintzen-Goldberg syndrome 2022-08-23 criteria provided, single submitter clinical testing 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. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 118 of the SKI protein (p.Glu118Lys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SKI-related conditions. ClinVar contains an entry for this variant (Variation ID: 222819). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SKI protein function.

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