Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000653874 | SCV000775764 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2022-03-03 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 543194). This premature translational stop signal has been observed in individual(s) with cardiac conduction system disease (PMID: 20627339, 22071332). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu381Glyfs*99) in the LMNA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic. |