Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003074963 | SCV003461760 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Neuberg Centre For Genomic Medicine, |
RCV003340619 | SCV004048546 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | criteria provided, single submitter | clinical testing | The missense variant in c.5183C>T(p.Pro1728Leu) in DYSF gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant has allele frequency 0.001194% in the gnomAD and novel in 1000 genome database. The amino acid Pro at position 1728 is changed to a Leu changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Pro1728Leu in DYSF is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance. |