ClinVar Miner

Submissions for variant NM_001048166.1(STIL):c.3157G>A (p.Gly1053Ser)

gnomAD frequency: 0.00010  dbSNP: rs201354921
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147693 SCV000195145 uncertain significance Microcephaly 7, primary, autosomal recessive 2014-04-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515987 SCV002930569 uncertain significance not provided 2023-04-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with STIL-related conditions. This variant is present in population databases (rs201354921, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1052 of the STIL protein (p.Gly1052Ser). ClinVar contains an entry for this variant (Variation ID: 160062). 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 STIL protein function.

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