Description
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 SIX1 protein function. This variant has not been reported in the literature in individuals affected with SIX1-related conditions. This variant is present in population databases (rs779837812, gnomAD 0.002%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 161 of the SIX1 protein (p.Thr161Ser).
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | unknown | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |