Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000201055 | SCV000255677 | pathogenic | Charcot-Marie-Tooth disease type 2A2 | 2015-08-20 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001092581 | SCV001249142 | pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003581583 | SCV004291597 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2024-01-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr752*) in the MFN2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acid(s) of the MFN2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 21508331, 34721278; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 217162). For these reasons, this variant has been classified as Pathogenic. |