ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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://; dbSNP rs60662302).
CSER _CC_NCGL, University of Washington 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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000057361 SCV000225441 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
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 RCV001088263 SCV000559823 likely benign Charcot-Marie-Tooth disease, type 2 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617798 SCV000736327 likely benign Cardiovascular phenotype 2018-11-06 criteria provided, single submitter clinical testing In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Color RCV000771799 SCV000904496 likely benign Cardiomyopathy 2018-08-27 criteria provided, single submitter clinical testing
Epithelial Biology; Institute of Medical Biology, Singapore RCV000057361 SCV000088474 not provided not provided no assertion provided not provided

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