Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032034 | SCV001195341 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2F | 2021-08-04 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-3 of the SGCD gene, which includes the initiator codon. The 5' end of this event is unknown as it extends beyond the assayed region for this gene and therefore may encompass additional genes. The 3' boundary is likely confined to intron 3 of the SGCD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SGCD are known to be pathogenic (PMID: 8841194, 10735275, 10838250). A similar copy number variant has been observed in individual(s) with muscular dystrophy and progressive muscle weakness (PMID: 26077850, 26633542). For these reasons, this variant has been classified as Pathogenic. |