Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000671447 | SCV000796423 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-12-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000671447 | SCV001226649 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2024-01-15 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 19 of the CAPN3 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is present in population databases (rs766917640, gnomAD 0.003%). 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: 555599). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Baylor Genetics | RCV003472137 | SCV004211528 | likely pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000671447 | SCV002085553 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-08-21 | no assertion criteria provided | clinical testing |