Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001037080 | SCV001200477 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2022-07-12 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with PRX-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PRX protein in which other variant(s) (p.Arg1070*) have been determined to be pathogenic (PMID: 15197604, 15469949, 16770524, 22847150, 26059842). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 836047). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln203*) in the PRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1259 amino acid(s) of the PRX protein. |