ClinVar Miner

Submissions for variant NM_001206744.2(TPO):c.670_672del (p.Asp224del)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003554914 SCV004292038 pathogenic not provided 2023-12-20 criteria provided, single submitter clinical testing This variant, c.670_672del, results in the deletion of 1 amino acid(s) of the TPO protein (p.Asp224del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs772164623, gnomAD 0.08%). This variant has been observed in individual(s) with clinical features of thyroid dyshormonogenesis (PMID: 25564141, 28867693, 32078117, 32088313). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects TPO function (PMID: 28867693, 32078117). For these reasons, this variant has been classified as Pathogenic.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796820 SCV005418349 likely pathogenic Deficiency of iodide peroxidase criteria provided, single submitter clinical testing PM2_Supporting+PM3_Strong+PP4+PM4
Fulgent Genetics, Fulgent Genetics RCV004796820 SCV005652935 pathogenic Deficiency of iodide peroxidase 2024-06-22 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.