ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.834A>T (p.Lys278Asn) (rs138048706)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662126 SCV000784469 uncertain significance Charcot-Marie-Tooth disease, type 4J 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662127 SCV000784470 uncertain significance Amyotrophic lateral sclerosis type 11 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662128 SCV000784471 uncertain significance Yunis Varon syndrome 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662129 SCV000784472 uncertain significance Polymicrogyria, bilateral temporooccipital 2018-03-05 criteria provided, single submitter clinical testing
Invitae RCV000462434 SCV000546064 uncertain significance Charcot-Marie-Tooth disease type 4 2016-11-13 criteria provided, single submitter clinical testing This sequence change replaces lysine with asparagine at codon 278 of the FIG4 protein (p.Lys278Asn). The lysine residue is moderately conserved and there is a moderate physicochemical difference between lysine and asparagine. This variant is present in population databases (rs138048706, ExAC 0.05%). This variant has been reported in a single individual affected with amyotrophic lateral sclerosis (PMID: 25299611). 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. Because it is found in the population at an appreciable frequency, this variant is not anticipated to cause disease. However, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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.