ClinVar Miner

Submissions for variant NM_080647.1(TBX1):c.855G>C (p.Lys285Asn)

dbSNP: rs2145836461
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002221959 SCV002499253 likely pathogenic DiGeorge syndrome 2022-02-09 criteria provided, single submitter clinical testing PS2, PM2, PP3
Labcorp Genetics (formerly Invitae), Labcorp RCV002221959 SCV004325263 uncertain significance DiGeorge syndrome 2023-09-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TBX1-related conditions. 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TBX1 protein function. ClinVar contains an entry for this variant (Variation ID: 1676577). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 285 of the TBX1 protein (p.Lys285Asn).

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.