ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)

dbSNP: rs60290646
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000488077 SCV000574792 likely pathogenic not provided 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000816556 SCV000957071 pathogenic Charcot-Marie-Tooth disease type 2 2018-11-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed to be de novo in an individual affected with lipodystrophy (Invitae). This variant has also been observed in an individual affected with Hutchinson–Gilford progeria syndrome (PMID: 25001855). ClinVar contains an entry for this variant (Variation ID: 424915). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with glycine at codon 53 of the LMNA protein (p.Glu53Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

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.