Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668298 | SCV000792873 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-07-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668298 | SCV000834391 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-01-21 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 552945). This variant is also known as 2313delAGAC. This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 7720071, 25135358). This variant is present in population databases (rs764086484, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Asp772Asnfs*3) 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). |
Fulgent Genetics, |
RCV002499161 | SCV002809873 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2021-11-24 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003459594 | SCV004213825 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2022-10-06 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000668298 | SCV002085559 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-02-12 | no assertion criteria provided | clinical testing |