Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000349807 | SCV000334169 | pathogenic | not provided | 2015-08-11 | criteria provided, single submitter | clinical testing | |
Kariminejad - |
RCV001814142 | SCV001755305 | pathogenic | Abnormality of the musculature | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Laboratory of Medical Genetics, |
RCV001729504 | SCV001976957 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-10-01 | criteria provided, single submitter | clinical testing | PVS1, PM1, PM2, PP3, PP5 |
Revvity Omics, |
RCV000349807 | SCV002018061 | pathogenic | not provided | 2021-08-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001729504 | SCV002229974 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2022-05-03 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 282617). This sequence change creates a premature translational stop signal (p.Tyr537*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (LGMD) (PMID: 9150160). It has also been observed to segregate with disease in related individuals. For these reasons, this variant has been classified as Pathogenic. |