ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1122C>T (p.His374=) (rs143715750)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150949 SCV000198611 likely benign not specified 2012-03-19 criteria provided, single submitter clinical testing His374His in exon 6 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/3738 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://; dbSNP rs143715750).
Ambry Genetics RCV000242405 SCV000319676 likely benign Cardiovascular phenotype 2015-05-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725445 SCV000336992 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Invitae RCV001046037 SCV001209922 uncertain significance Charcot-Marie-Tooth disease, type 2 2020-09-03 criteria provided, single submitter clinical testing This sequence change affects codon 374 of the LMNA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the LMNA protein. This sequence change has not been published in the literature and is present in population databases (rs143715750, 0.02%). This silent change is not expected to affect splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change. Although there is no indication that this sequence change affects protein function or causes disease, the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color Health, Inc RCV001182014 SCV001347328 likely benign Cardiomyopathy 2019-07-15 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.