Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068127 | SCV001233217 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-12-22 | 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: 861571). This premature translational stop signal has been observed in individual(s) with limb girdle muscular dystrophy (LGMD) type 2A (PMID: 15221789, 18854869). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala34Leufs*23) 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). |
Baylor Genetics | RCV003462607 | SCV004213806 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-02-07 | criteria provided, single submitter | clinical testing |