ClinVar Miner

Submissions for variant NM_003977.4(AIP):c.403C>T (p.His135Tyr)

gnomAD frequency: 0.00006  dbSNP: rs150487522
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001021731 SCV001183380 benign Hereditary cancer-predisposing syndrome 2023-05-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001437421 SCV001640274 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001437421 SCV003845804 uncertain significance not provided 2022-09-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004570001 SCV005059389 uncertain significance Somatotroph adenoma 2024-03-30 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.