ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.230T>C (p.Ile77Thr)

dbSNP: rs876657850
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000222436 SCV000271923 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing The p.Ile77Thr variant in LMNA has not been previously reported in individuals w ith cardiomyopathy and large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of p.Ile77Thr variant is uncertain.
Invitae RCV001344429 SCV001538482 uncertain significance Charcot-Marie-Tooth disease type 2 2020-01-23 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. 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 not been reported in the literature in individuals with LMNA-related conditions. ClinVar contains an entry for this variant (Variation ID: 228803). This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with threonine at codon 77 of the LMNA protein (p.Ile77Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine.

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.