ClinVar Miner

Submissions for variant NM_001077653.2(TBX20):c.785C>T (p.Thr262Met)

gnomAD frequency: 0.00003  dbSNP: rs747369702
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 RCV001884460 SCV002154262 uncertain significance not provided 2024-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 262 of the TBX20 protein (p.Thr262Met). This variant is present in population databases (rs747369702, gnomAD 0.03%). This missense change has been observed in individual(s) with TBX20-related conditions (PMID: 18834961, 27642787). ClinVar contains an entry for this variant (Variation ID: 1388244). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt TBX20 protein function with a negative predictive value of 80%. 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.
Ambry Genetics RCV002407008 SCV002670938 uncertain significance Cardiovascular phenotype 2024-04-12 criteria provided, single submitter clinical testing The p.T262M variant (also known as c.785C>T), located in coding exon 5 of the TBX20 gene, results from a C to T substitution at nucleotide position 785. The threonine at codon 262 is replaced by methionine, an amino acid with similar properties. This alteration has been reported to have arisen de novo in two individuals, one with left ventricular noncompaction and one with tetralogy of Fallot, patent foramen ovale, and patent ductus arteriosus (Liu C et al. 2008. Eur J Med Genet Sep;51:580-7; Kodo K et al. Nat. Cell Biol., 2016 10;18:1031-42). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002503499 SCV002814904 uncertain significance Atrial septal defect 4 2021-10-25 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.