Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute for Clinical Genetics, |
RCV003238586 | SCV002010660 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003603106 | SCV004515335 | uncertain significance | Exostoses, multiple, type 2 | 2023-09-04 | criteria provided, single submitter | clinical testing | This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 103 of the EXT2 protein (p.Lys103Glu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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 EXT2 protein function. ClinVar contains an entry for this variant (Variation ID: 1319284). This variant has not been reported in the literature in individuals affected with EXT2-related conditions. |