Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Neuberg Centre For Genomic Medicine, |
RCV003389382 | SCV004101541 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | criteria provided, single submitter | clinical testing | The inframe variant in c.3325_3333del in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Arg1109_Arg1111del variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. This p.Arg1109_Arg1111del causes deletion of amino acid Arginine at position 1109 to Arginine at position 1111. For these reasons, this variant has been classified as Uncertain Significance (VUS). |