ClinVar Miner

Submissions for variant NM_052989.3(IFT122):c.2437A>G (p.Thr813Ala)

gnomAD frequency: 0.00001  dbSNP: rs565504126
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001903678 SCV002170187 uncertain significance Cranioectodermal dysplasia 1 2023-08-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs565504126, gnomAD 0.08%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 864 of the IFT122 protein (p.Thr864Ala). This variant has not been reported in the literature in individuals affected with IFT122-related conditions. ClinVar contains an entry for this variant (Variation ID: 1405271). 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 not expected to disrupt IFT122 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV001903678 SCV005661362 uncertain significance Cranioectodermal dysplasia 1 2024-05-15 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.