ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.438C>T (p.Ala146=) (rs80356805)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 11
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617451 SCV000735849 benign Cardiovascular phenotype 2016-04-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000041349 SCV000614030 benign not specified 2017-07-27 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768711 SCV000900081 benign Cardiomyopathy 2015-10-09 criteria provided, single submitter clinical testing
Color RCV000768711 SCV000910955 benign Cardiomyopathy 2018-03-15 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000041349 SCV000331148 benign not specified 2015-08-07 criteria provided, single submitter clinical testing
GeneDx RCV000041349 SCV000170141 benign not specified 2011-07-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genetic Services Laboratory, University of Chicago RCV000041349 SCV000193522 benign not specified 2016-06-10 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587594 SCV000699969 benign not provided 2016-09-19 criteria provided, single submitter clinical testing Variant summary: The LMNA c.438C>T (p.Ala146Ala) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. 5/5 splice prediction tools predict no significant impact on normal splicing. This variant was found in 281/109760 control chromosomes (2 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.0277371 (265/9554). This frequency is about 111 times the estimated maximal expected allele frequency of a pathogenic LMNA variant (0.00025), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign/likely benign. Taken together, this variant is classified as Benign.
Invitae RCV000461263 SCV000559820 benign Charcot-Marie-Tooth disease, type 2 2018-01-23 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041349 SCV000065042 benign not specified 2012-07-06 criteria provided, single submitter clinical testing Ala146Ale in exon 2 of LMNA: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence, and has been identified in 2.5% (108/4406) of Afri can American chromosomes from a broad population by the NHLBI Exome Sequencing P roject (http://evs.gs.washington.edu/EVS/; dbSNP rs80356805).
PreventionGenetics RCV000041349 SCV000316410 likely benign not specified 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.