Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518731 | SCV000612643 | pathogenic | not provided | 2017-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001243276 | SCV001416423 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-10-25 | criteria provided, single submitter | clinical testing | Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 446980). This sequence change creates a premature translational stop signal (p.Ile112Lysfs*7) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). |