ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.895A>G (p.Ile299Val) (rs150924946)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041378 SCV000065071 uncertain significance not specified 2019-03-07 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile299Val variant in LMNA has been reported in 1 individual with Familial Partial Lipodystrophy (FPLD2) and lipomas (it is unclear if this individual had any cardiac manifestations), segregated with disease in 2 affected relatives but was also detected in 1 assymptomatic nephew of the proband, and was absent from 100 control chromosomes (Araújo-Vilar 2011). It has also been reported in 1 individual with DCM (Pugh 2014). This variant has also been identified in 0.3% of Latino chromosomes in gnomAD. Conserved across evolutionarily distant species, however computational predictions on the impact to the protein are mixed . This data suggests that the Ile299Val variant may be benign for cardiomyopathy and Familial Partial Lipodystrophy, although additional information is needed to fully assess its clinical significance.
Invitae RCV001086902 SCV000218516 likely benign Charcot-Marie-Tooth disease, type 2 2020-11-14 criteria provided, single submitter clinical testing
GeneDx RCV000726532 SCV000234686 likely benign not provided 2021-01-18 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 28663758, 25163546, 25351510, 25367549, 25637381, 24503780, 21883346, 27841971, 26332594, 25832542)
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726532 SCV000345279 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619864 SCV000735968 likely benign Cardiovascular phenotype 2017-11-17 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Color Health, Inc RCV000777745 SCV000913706 likely benign Cardiomyopathy 2018-09-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000726532 SCV001144442 benign not provided 2018-09-07 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001174244 SCV001337373 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
CSER _CC_NCGL, University of Washington RCV000148604 SCV000190319 uncertain significance Familial partial lipodystrophy 2 2014-06-01 no assertion criteria provided research

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.