Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003122209 | SCV003788818 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2E | 2023-08-30 | criteria provided, single submitter | clinical testing | A similar copy number variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 27108072). This variant is a gross deletion of the genomic region encompassing exon(s) 6 of the SGCB gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. This variant disrupts a region of the SGCB protein in which other variant(s) (p.Arg267Alafs*34) have been observed in individuals with SGCB-related conditions (PMID: 28687063). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |