ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2606A>G (p.Gln869Arg)

gnomAD frequency: 0.00009  dbSNP: rs137926033
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 RCV001298956 SCV001488027 uncertain significance Jeune thoracic dystrophy; Nephronophthisis 2024-11-16 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 869 of the TTC21B protein (p.Gln869Arg). This variant is present in population databases (rs137926033, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of Meckel-Gruber syndrome (PMID: 21258341). ClinVar contains an entry for this variant (Variation ID: 1002519). 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 TTC21B protein function with a negative predictive value of 95%. 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.
GeneDx RCV001549692 SCV001769890 uncertain significance not provided 2024-05-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Reported in an individual with a Meckel-Gruber-like phenotype in the literature (PMID: 21258341); This variant is associated with the following publications: (PMID: 21258341, 31764884)
Fulgent Genetics, Fulgent Genetics RCV002486149 SCV002778746 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2024-04-11 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.