ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.1026A>T (p.Lys342Asn)

gnomAD frequency: 0.00008  dbSNP: rs190623423
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000862139 SCV001002598 likely benign Spastic paraplegia 2024-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849155 SCV002104953 uncertain significance Hereditary spastic paraplegia 2019-08-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003141873 SCV003820632 uncertain significance Charlevoix-Saguenay spastic ataxia 2019-11-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003892784 SCV004717203 likely benign SACS-related disorder 2022-03-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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.