ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile)

gnomAD frequency: 0.00001  dbSNP: rs772742353
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000658671 SCV000225024 uncertain significance not provided 2014-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000658671 SCV000614989 uncertain significance not provided 2023-05-23 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools disagree on the variant's effect on normal protein function.
CeGaT Center for Human Genetics Tuebingen RCV000658671 SCV000780454 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001276936 SCV002026502 uncertain significance Charlevoix-Saguenay spastic ataxia 2021-09-05 criteria provided, single submitter clinical testing
Invitae RCV001852116 SCV002291451 likely benign Spastic paraplegia 2023-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276936 SCV001463594 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-09-16 no assertion criteria provided clinical testing

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.