ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.307C>T (p.Gln103Ter) (rs1131691980)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.