Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037083 | SCV001200480 | pathogenic | Bethlem myopathy 1 | 2022-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 836050). This variant has not been reported in the literature in individuals affected with COL6A3-related conditions. This variant is present in population databases (rs377632042, gnomAD 0.04%). This sequence change creates a premature translational stop signal (p.Ser721*) in the COL6A3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL6A3 are known to be pathogenic (PMID: 26004199). |
Gene |
RCV002245838 | SCV002512825 | uncertain significance | not provided | 2022-04-19 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge |