Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044702 | SCV001208513 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2023-01-08 | 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: 842305). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu536Lysfs*12) 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). |
Gene |
RCV002466612 | SCV002762174 | likely pathogenic | not provided | 2022-06-06 | criteria provided, single submitter | clinical testing | Identified in a patient with muscle wasting and cardiac involvement who also harbored a variant in another EDMD-related gene (Meinke et al., 2020); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 31862442) |