Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001057496 | SCV001221993 | pathogenic | Charcot-Marie-Tooth disease type 2E | 2022-07-05 | 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: 852797). This variant has not been reported in the literature in individuals affected with NEFL-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser11*) in the NEFL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NEFL are known to be pathogenic (PMID: 19158810, 20039262). |