ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.726G>A (p.Ala242=) (rs763625309)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000345591 SCV000332417 uncertain significance not provided 2015-06-30 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780388 SCV000917598 uncertain significance not specified 2018-09-24 criteria provided, single submitter clinical testing Variant summary: LMNA c.726G>A alters a non-conserved nucleotide resulting in a synonymous change. 3/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4.3e-05 in 277204 control chromosomes. This frequency is not higher than expected for a pathogenic variant in LMNA causing Cardiomyopathy (4.3e-05 vs 0.00025), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.726G>A in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as benign/likely benign, and one laboratory classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000653975 SCV000775865 likely benign Charcot-Marie-Tooth disease, type 2 2017-10-05 criteria provided, single submitter clinical testing

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.