Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000525920 | SCV000657801 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2022-07-19 | 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: 476823). 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.Leu479Argfs*11) 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 |
RCV000599572 | SCV000710719 | likely pathogenic | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | A variant that is likely pathogenic has been identified in the LMNA gene. The c.1436delT variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.1436delT variant causes a frameshift starting with codon Leucine 479, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 11 of the new reading frame, denoted p.Leu479ArgfsX11. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1436delT variant is not observed in large population cohorts (Lek et al., 2016). Therefore, this variant is likelypathogenic; however, the possibility that it is benign cannot be excluded. |
| Revvity Omics, |
RCV000599572 | SCV002022705 | likely pathogenic | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing |