ClinVar Miner

Submissions for variant NM_001195248.2(APTX):c.124C>T (p.Arg42Ter) (rs201912053)

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
GeneDx RCV000480449 SCV000569761 likely pathogenic not provided 2018-10-09 criteria provided, single submitter clinical testing The R42X variant in the APTX gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although not observed as homozygous, the R42X variant is observed in 8/10152 (0.079%) alleles from individuals of Ashkenazi Jewish background and 12/277186 (0.0043%) total alleles in large population cohorts (Lek et al., 2016). We interpret R42X as a likely pathogenic variant.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000616687 SCV000731377 likely pathogenic Ataxia-oculomotor apraxia type 1 2017-01-03 criteria provided, single submitter clinical testing The p.Arg42X (NM_175073.2 c.124C>T) variant in APTX has not been reported in ind ividuals with clinical features of ataxia with oculomotor apraxia type 1. This v ariant has been identified in 3/11578 of Latino chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201912053). This nonsense variant leads to a premature termination codon at position 42, which is predicted to lead to a truncated or absent protein. Biallelic loss of function of the APTX gene has been associated with ataxia with oculomotor apraxia type 1. In summary, although additional studies are required to fully establish a null effect on the protein, the p.Arg42X variant in APTX is likely pathogenic for ata xia with oculomotor apraxia type 1 in an autosomal recessive manner based upon p redicted impact on protein function.

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.