Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047280 | SCV001211224 | pathogenic | Bethlem myopathy 1 | 2019-03-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 26004199). This variant has not been reported in the literature in individuals with COL6A3-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln2556*) in the COL6A3 gene. It is expected to result in an absent or disrupted protein product. |