Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000492819 | SCV000583262 | likely pathogenic | not provided | 2016-09-01 | criteria provided, single submitter | clinical testing | The Q103X variant in the LMNA gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. The Q103X variant is predicted to cause loss of normal protein function either by protein truncation or nonsense-mediated mRNA decay. Other nonsense variants in the LMNA gene have been reported in HGMD in association with cardiomyopathy (Stenson et al., 2014). Furthermore, the Q103X variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.In summary, Q103X in the LMNA gene is expected to be pathogenic |
| Labcorp Genetics |
RCV005091051 | SCV005754317 | pathogenic | Charcot-Marie-Tooth disease type 2 | 2024-06-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln103*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 430457). For these reasons, this variant has been classified as Pathogenic. |