Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000382340 | SCV000331273 | pathogenic | not provided | 2016-12-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000535509 | SCV000649663 | pathogenic | Qualitative or quantitative defects of dysferlin | 2024-01-12 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr1148*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individuals with Miyoshi myopathy, distal myopathy, limb-girdle muscular dystrophy, and dysferlinopathy (PMID: 15469449, 19528035, 25493284, 27066573, 27602406). This variant is also known as 3817–8TG>AA. ClinVar contains an entry for this variant (Variation ID: 94305). For these reasons, this variant has been classified as Pathogenic. |
Fulgent Genetics, |
RCV000763089 | SCV000893616 | pathogenic | Miyoshi muscular dystrophy 1; Autosomal recessive limb-girdle muscular dystrophy type 2B; Distal myopathy with anterior tibial onset | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000382340 | SCV002021887 | pathogenic | not provided | 2021-11-25 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV000984168 | SCV004012115 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2022-12-22 | criteria provided, single submitter | research | |
Baylor Genetics | RCV003460750 | SCV004194206 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-09-21 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000382340 | SCV004225935 | pathogenic | not provided | 2023-05-10 | criteria provided, single submitter | clinical testing | PM2, PM3, PS4_moderate, PVS1 |
Counsyl | RCV000984168 | SCV001132181 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2018-02-01 | no assertion criteria provided | clinical testing |