Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672170 | SCV000797249 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-01-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001855574 | SCV002220936 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-06-03 | 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: 556201). This premature translational stop signal has been observed in individual(s) with DYSF-related conditions (PMID: 19493611, 25900324). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln176*) in the DYSF gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYSF are known to be pathogenic (PMID: 17698709, 20301480). |
Baylor Genetics | RCV003459635 | SCV004196496 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Department Of Genetics, |
RCV000672170 | SCV000891633 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-12-30 | no assertion criteria provided | curation |