ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.527del (p.Thr176fs)

dbSNP: rs1553653680
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
Invitae RCV000633683 SCV000754946 pathogenic Biotinidase deficiency 2022-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr196Lysfs*68) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 348 amino acid(s) of the BTD protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BTD protein in which other variant(s) (p.Leu498Phefs*13) have been determined to be pathogenic (PMID: 17382128, 19728141, 29359854). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 528478). This premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 22698809). This variant is not present in population databases (gnomAD no frequency).
Counsyl RCV000633683 SCV000791041 likely pathogenic Biotinidase deficiency 2017-04-25 criteria provided, single submitter clinical testing
Baylor Genetics RCV000633683 SCV004211434 pathogenic Biotinidase deficiency 2023-08-21 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.