Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038288 | SCV001201752 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2023-02-22 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 837037). This premature translational stop signal has been observed in individual(s) with CAPN3-related conditions (PMID: 32994280). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His774Glnfs*8) 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). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV001784577 | SCV002018051 | pathogenic | not provided | 2019-10-22 | criteria provided, single submitter | clinical testing |