Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055223 | SCV001219601 | uncertain significance | Bethlem myopathy 1 | 2022-11-08 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of COL6A2-related conditions (Invitae). This variant is present in population databases (rs147670858, gnomAD 0.07%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 952 of the COL6A2 protein (p.Thr952Met). ClinVar contains an entry for this variant (Variation ID: 850936). 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 COL6A2 protein function. |