Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000470042 | SCV000553358 | uncertain significance | not provided | 2023-05-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with SZT2-related conditions. 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 SZT2 protein function. ClinVar contains an entry for this variant (Variation ID: 411943). This variant is present in population databases (rs143540691, gnomAD 0.006%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2250 of the SZT2 protein (p.Ala2250Val). |