ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.346C>T (p.Leu116=)

dbSNP: rs876657491
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000213438 SCV000270363 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Leu116Leu in exon 1 of LMNA: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence.
Color Diagnostics, LLC DBA Color Health RCV000771953 SCV000904907 likely benign Cardiomyopathy 2018-07-22 criteria provided, single submitter clinical testing
Invitae RCV000904865 SCV001049415 likely benign Charcot-Marie-Tooth disease type 2 2023-01-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002336594 SCV002618792 uncertain significance Cardiovascular phenotype 2021-11-29 criteria provided, single submitter clinical testing The c.346C>T variant (also known as p.L116L), located in coding exon 1 of the LMNA gene, results from a C to T substitution at nucleotide position 346. This nucleotide substitution does not change the leucine at codon 116. This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.