ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1747_1750dup (p.Arg584fs)

dbSNP: rs1651858164
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
Color Diagnostics, LLC DBA Color Health RCV001179519 SCV001344189 uncertain significance Cardiomyopathy 2023-07-27 criteria provided, single submitter clinical testing This variant inserts 4 nucleotides in exon 11 of the LMNA gene. This variant represents c.1747_1750dup (p.Arg584Leufs\*121) in the lamin A transcript (NM_170707.2) and is expected to extend the length of the lamin A protein due to the addition of 60 novel amino acids after the site of frameshift. This variant corresponds to c.\*772_*775dup in the lamin C transcript (NM_005572.3). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with LMNA-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.