ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.2T>C (p.Met1Thr)

dbSNP: rs267606546
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
Invitae RCV003556103 SCV004294883 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing 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: 41173). Disruption of the initiator codon has been observed in individual(s) with pituitary adenoma (PMID: 21546764, 26186299, 26792934). This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the AIP mRNA. The next in-frame methionine is located at codon 60.
GeneReviews RCV000034072 SCV000058002 not provided Somatotroph adenoma no assertion provided literature only

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.