ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.866A>G (p.Tyr289Cys)

gnomAD frequency: 0.00002  dbSNP: rs1372232699
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 RCV001213944 SCV001385605 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2023-08-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 943696). 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 TTC21B 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. This variant has not been reported in the literature in individuals affected with TTC21B-related conditions. This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 289 of the TTC21B protein (p.Tyr289Cys). This variant is not present in population databases (gnomAD no frequency).
Fulgent Genetics, Fulgent Genetics RCV002491658 SCV002785733 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-01-02 criteria provided, single submitter clinical testing
GeneDx RCV003442773 SCV004170053 uncertain significance not provided 2023-05-12 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.