ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.539C>A (p.Pro180Gln)

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
Ambry Genetics RCV002347229 SCV002652124 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-21 criteria provided, single submitter clinical testing The p.P180Q variant (also known as c.539C>A), located in coding exon 4 of the AIP gene, results from a C to A substitution at nucleotide position 539. The proline at codon 180 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572307 SCV005060243 uncertain significance Somatotroph adenoma 2023-11-14 criteria provided, single submitter clinical testing

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.