Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000692092 | SCV000819899 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-07-30 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant results in an extension of the CAPN3 protein. Other variant(s) that result in a similarly extended protein product (p.*822Argext*62) have been observed in individuals with CAPN3-related disease (PMID: 30919934). This suggests that these extensions may be clinically significant. ClinVar contains an entry for this variant (Variation ID: 571060). This protein extension has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy type 2A (PMID: 24715573). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change disrupts the translational stop signal of the CAPN3 mRNA. It is expected to extend the length of the CAPN3 protein by 62 additional amino acid residues. |
| Baylor Genetics | RCV003472206 | SCV004211505 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-28 | criteria provided, single submitter | clinical testing |