Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000992663 | SCV001145110 | pathogenic | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and not found in general population data. |
| Invitae | RCV002536918 | SCV003441675 | pathogenic | Charcot-Marie-Tooth disease, type I | 2022-03-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln86*) in the PMP22 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMP22 are known to be pathogenic (PMID: 23224996). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 12402337, 29127354). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 637389). |
| Inherited Neuropathy Consortium | RCV000789532 | SCV000928888 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |