Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000306743 | SCV000337666 | pathogenic | not provided | 2015-11-23 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000306743 | SCV003822499 | likely pathogenic | not provided | 2022-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003631105 | SCV004400534 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2023-12-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp727Glyfs*49) 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 not present in population databases (gnomAD no frequency). 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: 284870). For these reasons, this variant has been classified as Pathogenic. |