ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) (rs60662302)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000617798 SCV000736327 likely benign Cardiovascular phenotype 2016-09-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
CSER_CC_NCGL; University of Washington Medical Center RCV000148601 SCV000190316 uncertain significance Insulin resistance syndrome, type A 2014-06-01 criteria provided, single submitter research Low GERP score may suggest that this variant may belong in a lower pathogenicity class
Color RCV000771799 SCV000904496 likely benign Cardiomyopathy 2018-08-27 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000057361 SCV000225441 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057361 SCV000088474 not provided not provided no assertion provided not provided
GeneDx RCV000041334 SCV000520583 likely benign not specified 2017-09-07 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.
Invitae RCV000460204 SCV000559823 likely benign Charcot-Marie-Tooth disease, type 2 2017-12-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000041334 SCV000065027 likely benign not specified 2012-04-18 criteria provided, single submitter clinical testing The Gly602Ser variant (LMNA) has been reported in two individuals with varying c linical features (type A insulin resistance syndrome and Emery Dreifuss muscular dystrophy; Young 2005, Scharner 2011). However, this variant is not expected t o have clinical significance because glycine at position 602 is not conserved in mammals and this variant has been identified in 0.3% (11/3730) of African Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS/; dbSNP rs60662302).

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.