Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725225 | SCV000335121 | pathogenic | not provided | 2018-06-29 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000283334 | SCV000792539 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2017-06-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000283334 | SCV002242152 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-05-30 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 10330340). ClinVar contains an entry for this variant (Variation ID: 283179). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu582Glyfs*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). |