ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) (rs765061840)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000224985 SCV000281763 pathogenic Charcot-Marie-Tooth disease, axonal type 2X 2016-04-14 criteria provided, single submitter research
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000757917 SCV000886427 pathogenic Spastic paraplegia 11, autosomal recessive 2018-07-20 criteria provided, single submitter research
Invitae RCV000757917 SCV001411210 pathogenic Spastic paraplegia 11, autosomal recessive 2019-08-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln541*) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs765061840, ExAC 0.002%). This variant has been observed in combination with a different variant in the SPG11 gene in several individuals affected with hereditary spastic paraplegia or amyotrophic lateral sclerosis (PMID: 28554332, 29246610, 25299611). ClinVar contains an entry for this variant (Variation ID: 235891). Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). For these reasons, this variant has been classified as Pathogenic.

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.