ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.163G>A (p.Ala55Thr)

dbSNP: rs769506718
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001896216 SCV002167364 uncertain significance Shprintzen-Goldberg syndrome 2021-10-14 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. 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 not expected to disrupt SKI protein function. This variant has not been reported in the literature in individuals affected with SKI-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This sequence change replaces alanine with threonine at codon 55 of the SKI protein (p.Ala55Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine.

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