ClinVar Miner

Submissions for variant NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser)

gnomAD frequency: 0.00026  dbSNP: rs201993443
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
Athena Diagnostics RCV000993259 SCV001146088 uncertain significance not provided 2018-11-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001058764 SCV001223356 uncertain significance DiGeorge syndrome 2025-01-15 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 437 of the TBX1 protein (p.Pro437Ser). This variant is present in population databases (rs201993443, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of DiGeorge syndrome (PMID: 30773290). ClinVar contains an entry for this variant (Variation ID: 805626). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
New York Genome Center RCV001058764 SCV001468743 uncertain significance DiGeorge syndrome 2019-07-22 criteria provided, single submitter clinical testing
GeneDx RCV000993259 SCV001805185 likely benign not provided 2021-05-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30773290)

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.