ClinVar Miner

Submissions for variant NM_198282.4(STING1):c.1013del (p.Lys338fs)

dbSNP: rs765347385
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
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264519 SCV002543014 uncertain significance Autoinflammatory syndrome 2017-05-04 criteria provided, single submitter clinical testing
Invitae RCV003101473 SCV003456770 uncertain significance STING-associated vasculopathy with onset in infancy 2022-11-03 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1694173). This variant has not been reported in the literature in individuals affected with TMEM173-related conditions. This variant is present in population databases (rs765347385, gnomAD 0.02%). This sequence change creates a premature translational stop signal (p.Lys338Argfs*9) in the TMEM173 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the TMEM173 protein. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.