Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033809 | SCV001197116 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 2-6 of the CAPN3 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. A similar copy number variant has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 29797799; https://www.nmd-journal.com/article/S0960-8966(08)00478-1/fulltext). This variant disrupts the p.Tyr170 amino acid residue in CAPN3. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18055493, 25135358). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |