ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) (rs781731042)

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
Ambry Genetics RCV000618252 SCV000736024 uncertain significance Cardiovascular phenotype 2018-08-29 criteria provided, single submitter clinical testing The p.G350D variant (also known as c.1049G>A), located in coding exon 8 of the TBX1 gene, results from a G to A substitution at nucleotide position 1049. The glycine at codon 350 is replaced by aspartic acid, an amino acid with similar properties. This alteration has been reported in an individual with an aortic arch anomaly; however, clinical details were limited (Gong W et al. J. Med. Genet. 2001 Dec;38:E45). This amino acid position is not well conserved on limited sequence alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics,Fulgent Genetics RCV000765609 SCV000896933 uncertain significance Conotruncal heart malformations; Shprintzen syndrome; DiGeorge Syndrome; Tetralogy of Fallot 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000876712 SCV001019319 likely benign DiGeorge Syndrome 2019-12-31 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.