ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)

gnomAD frequency: 0.00001  dbSNP: rs879253797
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neurogenetics of motion laboratory, Montreal Neurological Institute RCV000236780 SCV000245720 pathogenic Hereditary spastic paraplegia 7 criteria provided, single submitter case-control
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847905 SCV002105878 likely pathogenic Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Mendelics RCV000236780 SCV002519811 pathogenic Hereditary spastic paraplegia 7 2022-05-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000236780 SCV003922887 pathogenic Hereditary spastic paraplegia 7 2023-03-15 criteria provided, single submitter clinical testing Variant summary: SPG7 c.2249C>T (p.Pro750Leu) results in a non-conservative amino acid change in the encoded protein sequence. Four of four in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251330 control chromosomes (gnomAD). c.2249C>T has been reported in the literature in compound heterozygous individuals affected with Hereditary Spastic Paraplegia 7 (Klebe_2012), spastic ataxia (Choquet_2015), and ataxia (Coutelier_2017). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two submitters have provided clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was 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.