ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.875-2A>G

dbSNP: rs904293109
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
Genetic Services Laboratory, University of Chicago RCV000501832 SCV000593267 pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 2015-11-23 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000501832 SCV005060979 likely pathogenic Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia criteria provided, single submitter clinical testing The observed invariant splice acceptor c.875-2A>G variant in APTX gene has been reported previously in compound heterozygous state in individual(s) affected with early-onset ataxia with oculomotor apraxia and hypoalbuminemia (Sun M, et al., 2019). The c.875-2A>G variant is absent in gnomAD Exomes. This variant has been submitted to the ClinVar database as Pathogenic. Loss of function variants have been previously reported to be disease causing. However, additional functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Likely 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.