Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003338182 | SCV004047173 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | criteria provided, single submitter | clinical testing | The frame shift c.5265_5280del (p.Tyr1755Ter) variant in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Tyr1755Ter variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic. | |
Baylor Genetics | RCV003466068 | SCV004192259 | likely pathogenic | Miyoshi muscular dystrophy 1 | 2023-02-03 | criteria provided, single submitter | clinical testing |