Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV003460051 | SCV004192826 | uncertain significance | Exostoses, multiple, type 2 | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003460051 | SCV004294771 | uncertain significance | Exostoses, multiple, type 2 | 2023-01-26 | 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) performed at Invitae indicates that this missense variant is expected to disrupt EXT2 protein function. This missense change has been observed in individual(s) with multiple osteochondromas (PMID: 17301954). This variant is present in population databases (rs748351664, gnomAD 0.0009%). This sequence change replaces tryptophan, which is neutral and slightly polar, with glycine, which is neutral and non-polar, at codon 429 of the EXT2 protein (p.Trp429Gly). |