ClinVar Miner

Submissions for variant NM_030943.4(AMN):c.948del (p.Glu317fs)

dbSNP: rs2139312056
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001881125 SCV002142059 uncertain significance Imerslund-Grasbeck syndrome 2023-08-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu317Argfs*97) in the AMN gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 137 amino acid(s) of the AMN 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. ClinVar contains an entry for this variant (Variation ID: 1378412). This premature translational stop signal has been observed in individual(s) with clinical symptoms of Imerslund-Gräsbeck syndrome (Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency).

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.