ClinVar Miner

Submissions for variant NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)

gnomAD frequency: 0.00001  dbSNP: rs764453448
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001030784 SCV003241835 pathogenic Hereditary spastic paraplegia 45 2022-05-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 810633). This premature translational stop signal has been observed in individual(s) with clinical features of NT5C2-related conditions (PMID: 32214227). This variant is present in population databases (rs764453448, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg144*) in the NT5C2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in NT5C2 are known to be pathogenic (PMID: 24482476).
Section for Clinical Neurogenetics, University of Tübingen RCV001030784 SCV001156094 likely pathogenic Hereditary spastic paraplegia 45 2019-08-01 no assertion criteria provided research

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.