ClinVar Miner

Submissions for variant NM_024753.5(TTC21B):c.121T>C (p.Phe41Leu)

gnomAD frequency: 0.00002  dbSNP: rs776138424
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 RCV001878223 SCV002127455 likely benign Jeune thoracic dystrophy; Nephronophthisis 2023-10-13 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002482480 SCV002799561 uncertain significance Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 2022-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004039609 SCV004972678 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.121T>C (p.F41L) alteration is located in exon 2 (coding exon 2) of the TTC21B gene. This alteration results from a T to C substitution at nucleotide position 121, causing the phenylalanine (F) at amino acid position 41 to be replaced by a leucine (L). 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.