ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs)

dbSNP: rs312262727
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000034174 SCV001202580 pathogenic Hereditary spastic paraplegia 11 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu491Aspfs*66) in the SPG11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SPG11 are known to be pathogenic (PMID: 19105190, 20110243, 22154821, 26556829). This variant is present in population databases (rs312262727, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with hereditary spastic paraplegia (PMID: 18079167, 27217339). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 41273). For these reasons, this variant has been classified as Pathogenic.
Paris Brain Institute, Inserm - ICM RCV000034174 SCV001451245 pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000034174 SCV002764132 pathogenic Hereditary spastic paraplegia 11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005007928 SCV005637749 pathogenic Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X 2024-02-27 criteria provided, single submitter clinical testing
GeneReviews RCV000034174 SCV000058112 not provided Hereditary spastic paraplegia 11 no assertion provided literature only

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.