Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001064000 | SCV001228872 | uncertain significance | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2019-04-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with COL12A1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces valine with methionine at codon 2292 of the COL12A1 protein (p.Val2292Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). |