Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001953298 | SCV002218403 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2021-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SGCB-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu10Aspfs*9) 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). |
Myriad Genetics, |
RCV001953298 | SCV002602501 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2022-01-08 | criteria provided, single submitter | clinical testing | NM_000232.4(SGCB):c.30delA(E10Dfs*9) is expected to be pathogenic in the context of beta-sarcoglycanopathy. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in SGCB, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |
Baylor Genetics | RCV001953298 | SCV005056704 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2024-01-24 | criteria provided, single submitter | clinical testing |