ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.743T>C (p.Leu248Pro)

dbSNP: rs58850446
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002381369 SCV002674569 uncertain significance Cardiovascular phenotype 2021-03-03 criteria provided, single submitter clinical testing The p.L248P variant (also known as c.743T>C), located in coding exon 4 of the LMNA gene, results from a T to C substitution at nucleotide position 743. The leucine at codon 248 is replaced by proline, an amino acid with similar properties. This variant was reported in an individual with familial Emery-Dreifuss muscular dystrophy, who had elbow contractures and humeroperoneal myopathy with no cardiac findings (Vytopil M et al. J Med Genet, 2003 Dec;40:e132). This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057451 SCV000088565 not provided not provided no assertion provided not provided

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.