Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000627356 | SCV000701518 | pathogenic | not provided | 2018-04-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000627356 | SCV000748349 | pathogenic | not provided | 2018-04-24 | criteria provided, single submitter | clinical testing | The E343X variant in the CAPN3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E343X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E343X as a pathogenic variant. |
Invitae | RCV000591954 | SCV000830883 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu343*) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is present in population databases (rs766334893, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 497182). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003459462 | SCV004213754 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-07-10 | criteria provided, single submitter | clinical testing |