Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001172757 | SCV001335824 | likely pathogenic | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Invitae | RCV001241428 | SCV001414442 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2022-04-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg1335*) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 127 amino acid(s) of the PRX protein. This variant is present in population databases (rs559968504, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 32376792). ClinVar contains an entry for this variant (Variation ID: 916819). 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. |