Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000666916 | SCV000791289 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003465457 | SCV004196540 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-04-24 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003767952 | SCV004628152 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-01-21 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 551775). This premature translational stop signal has been observed in individual(s) with clinical features of DYSF-related conditions (PMID: 32400077). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2045*) 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). For these reasons, this variant has been classified as Pathogenic. |