Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206056 | SCV000259594 | pathogenic | Charcot-Marie-Tooth disease, type I | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 219616). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 25614874). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser47Glnfs*23) 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). |
Athena Diagnostics Inc | RCV000712770 | SCV000843295 | likely pathogenic | not provided | 2018-04-06 | criteria provided, single submitter | clinical testing | |
Inherited Neuropathy Consortium | RCV000790152 | SCV000929543 | pathogenic | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |