ClinVar Miner

Submissions for variant NM_001005373.4(LRSAM1):c.2128C>T (p.Arg710Cys)

gnomAD frequency: 0.00002  dbSNP: rs746213887
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001322499 SCV001513373 uncertain significance Charcot-Marie-Tooth disease axonal type 2P 2020-03-16 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with LRSAM1-related conditions. 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 is present in population databases (rs746213887, ExAC 0.007%). This sequence change replaces arginine with cysteine at codon 710 of the LRSAM1 protein (p.Arg710Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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.