Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001038919 | SCV001202420 | pathogenic | Qualitative or quantitative defects of dysferlin | 2021-01-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been reported to affect DYSF protein function (PMID: 23185377). This variant has been observed in individual(s) with limb-girdle muscular dystrophy or Miyoshi myopathy (PMID: 17698709, 18306167, 27647186, 28877744). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 837557). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 299 of the DYSF protein (p.Gly299Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. |