ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.2300T>C (p.Ile767Thr)

gnomAD frequency: 0.00029  dbSNP: rs140824612
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 RCV001916806 SCV002192490 likely benign Jeune thoracic dystrophy; Nephronophthisis 2024-03-25 criteria provided, single submitter clinical testing
GeneDx RCV002246600 SCV002520115 uncertain significance not provided 2022-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004681325 SCV005176480 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.2300T>C (p.I767T) alteration is located in exon 17 (coding exon 17) of the TTC21B gene. This alteration results from a T to C substitution at nucleotide position 2300, causing the isoleucine (I) at amino acid position 767 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.