Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000689673 | SCV000817336 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-10-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CAPN3 protein in which other variant(s) (p.Arg49Cys) have been determined to be pathogenic (PMID: 18055493, 18334579, 19285864, 19556129, 28403181). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 569125). Disruption of the initiator codon has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 25135358). This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects the initiator methionine of the CAPN3 mRNA. The next in-frame methionine is located at codon 228. |