Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001218302 | SCV001390177 | pathogenic | Bethlem myopathy 1 | 2019-08-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg417Alafs*128) in the COL6A2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL6A2 are known to be pathogenic (PMID: 19884007, 20976770). This variant has not been reported in the literature in individuals with COL6A2-related conditions. This variant is not present in population databases (ExAC no frequency). |