ClinVar Miner

Submissions for variant NM_001114748.2(TMEM240):c.47C>A (p.Ser16Ter)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard RCV002810027 SCV003761258 uncertain significance Spinocerebellar ataxia type 21 2023-01-25 criteria provided, single submitter curation The homozygous p.Ser16Ter variant in TMEM240 was identified by our study in two siblings with spinocerebellar ataxia (PMID: 34791078). These two affected individuals were homozygotes, which increases the likelihood that the p.Ser16Ter variant is pathogenic (PMID: 34791078). This variant was absent from large population studies. This nonsense variant leads to a premature termination codon at position 16, which is predicted to lead to a truncated or absent protein. While there is some evidence to suggest that loss of function of the TMEM240 gene is a disease mechanism in spinocerebellar ataxia 21, this association is not yet strongly established based on the criteria laid out in Tayoun, 2018 (PMID: 30192042). In summary, the clinical significance of the p.Ser16Ter variant is uncertain. ACMG/AMP Criteria applied: PVS1_Supporting, PM2_Supporting, PM3_Supporting (Richards 2015).

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.