ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.1504G>A (p.Ala502Thr)

gnomAD frequency: 0.00002  dbSNP: rs1215424724
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
Personalized Diabetes Medicine Program, University of Maryland School of Medicine RCV001174409 SCV001337547 uncertain significance Monogenic diabetes 2018-08-12 criteria provided, single submitter research ACMG criteria: PP3 (REVEL 0.818 +10 predictors), PM2 (1 in gnomAD), BP5 (alternate cause)=VUS
Invitae RCV002558773 SCV002957845 uncertain significance Charcot-Marie-Tooth disease type 2 2022-10-30 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt LMNA protein function. ClinVar contains an entry for this variant (Variation ID: 917431). This missense change has been observed in individual(s) with clinical features of LMNA-related conditions (PMID: 31383942). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 502 of the LMNA protein (p.Ala502Thr).

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.