Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222897 | SCV001395020 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-05-07 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the PRX gene (p.Arg196*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,266 amino acids of the PRX protein. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed to be homozygous or in combination with another PRX variant in individuals and a large family affected with Charcot-Marie-Tooth disease (PMID: 24011642, 11157804). ClinVar contains an entry for this variant (Variation ID: 4791). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000005057 | SCV000025233 | pathogenic | Charcot-Marie-Tooth disease, demyelinating, type 4F | 2001-02-15 | no assertion criteria provided | literature only | |
Inherited Neuropathy Consortium | RCV000789537 | SCV000928893 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |