Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000593493 | SCV000704573 | pathogenic | not provided | 2016-12-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001247085 | SCV001420487 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2023-03-09 | 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: 499202). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 15689361). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr745*) 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 | RCV003459470 | SCV004213780 | pathogenic | Muscular dystrophy, limb-girdle, autosomal dominant 4 | 2023-04-24 | criteria provided, single submitter | clinical testing |