ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.872A>G (p.Tyr291Cys)

dbSNP: rs1638585706
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001884104 SCV002153774 uncertain significance Shprintzen-Goldberg syndrome 2021-10-16 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 expected to disrupt SKI protein function. This variant has not been reported in the literature in individuals affected with SKI-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 291 of the SKI protein (p.Tyr291Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine.

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