Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000517932 | SCV000614808 | pathogenic | not provided | 2017-01-13 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001172753 | SCV001335819 | pathogenic | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001217420 | SCV001389258 | likely pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-05-21 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the PRX gene (p.Ile1096Trpfs*18). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 366 amino acids of the PRX protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with Charcot-Marie-Tooth disease (PMID: 18410371). ClinVar contains an entry for this variant (Variation ID: 448139). This variant disrupts the C-terminus of the PRX protein. Other variant(s) that disrupt this region (p.Glu1235*, p.Glu1322Glyfs*3, p.Gly1258Thrfs*124) have been observed in individuals with PRX-related conditions (PMID: 29858556, 24078732, 21840889). This suggests that this may be a clinically significant region of the protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |