Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001972590 | SCV002238207 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-08-07 | 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: 1457210). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. This variant is present in population databases (rs773554421, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Gln201*) in the SGCB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCB are known to be pathogenic (PMID: 15938573, 18285821). |
Baylor Genetics | RCV001972590 | SCV004200993 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-06-27 | criteria provided, single submitter | clinical testing |