Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000524058 | SCV000616712 | pathogenic | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | The c.245dupA variant in the EXT2 gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This duplication causes a frameshift starting with codon Aspartic Acid 82, changes this amino acid to a Glutamic Acid residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Asp82GlufsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.245dupA to be pathogenic. |
Invitae | RCV000793276 | SCV000932623 | pathogenic | Exostoses, multiple, type 2 | 2018-12-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with EXT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 449018). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp82Glufs*11) in the EXT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EXT2 are known to be pathogenic (PMID: 10679937, 19810120). For these reasons, this variant has been classified as Pathogenic. |