Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000182390 | SCV000234728 | pathogenic | not provided | 2017-01-17 | criteria provided, single submitter | clinical testing | The c.973dupG pathogenic variant in the LMNA gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant causes a shift in reading frame starting at codon Aspartic acid 325, changing it to a Glycine, and creating a premature stop codon at position 6 of the new reading frame, denoted p.Asp325GlyfsX6. This pathogenic variant is expected to result in either an abnormal, truncated protein product or loss of protein from this allele through nonsense-mediated mRNA decay. Multiple other frameshift variants in the LMNA gene have been reported in HGMD in association with LMNA-related disorders, including DCM (Stenson et al., 2014). Furthermore, c.973dupG 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. |