ClinVar Miner

Submissions for variant NM_001136473.1(LITAF):c.239A>G (p.Tyr80Cys) (rs539627278)

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
Invitae RCV000795892 SCV000935372 uncertain significance Charcot-Marie-Tooth disease, type 1C 2019-12-13 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 80 of the LITAF protein (p.Tyr80Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs539627278, ExAC 0.01%). This variant has been observed in one or more individuals who were not affected with Charcot_x0001_Marie_x0001_Tooth (CMT) 1C (PMID: 28211240). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000795892 SCV001369195 uncertain significance Charcot-Marie-Tooth disease, type 1C 2019-08-12 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PP3,BS2.

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.