Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV001169989 | SCV001251805 | pathogenic | not provided | 2020-05-03 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001229227 | SCV001401666 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-09-13 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the PRX gene (p.Ser1351Alafs*31). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 111 amino acids of the PRX protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with PRX-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |