Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000467141 | SCV000548847 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2019-12-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in LMNA are known to be pathogenic  (PMID: 23183350). This sequence change creates a premature translational stop signal at codon 330 (p.Glu330*) of the LMNA gene. It is expected to result in an absent or disrupted protein product. |