Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002853211 | SCV003225600 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2022-08-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu87*) in the SGCG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCG are known to be pathogenic (PMID: 18285821). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SGCG-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Baylor Genetics | RCV002853211 | SCV004201049 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2C | 2023-06-17 | criteria provided, single submitter | clinical testing |