ClinVar Miner

Submissions for variant NM_003036.4(SKI):c.463G>T (p.Ala155Ser)

dbSNP: rs867726673
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001882325 SCV002167178 uncertain significance Shprintzen-Goldberg syndrome 2023-09-17 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on SKI protein function. ClinVar contains an entry for this variant (Variation ID: 1393081). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 155 of the SKI protein (p.Ala155Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with craniosynostosis (PMID: 29168297).

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