Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003509948 | SCV004317856 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-08-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser154Tyrfs*4) 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). This variant is present in population databases (rs765139006, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SGCB-related conditions. For these reasons, this variant has been classified as Pathogenic. |