ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)

dbSNP: rs747548016
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665777 SCV000789949 likely pathogenic Biotinidase deficiency 2017-02-28 criteria provided, single submitter clinical testing
Invitae RCV000665777 SCV001211152 pathogenic Biotinidase deficiency 2019-12-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BTD protein. Other variant(s) that disrupt this region (p.Leu498Phefs*13) have been determined to be pathogenic (PMID: 17382128, 29359854, 19728141). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with BTD-related conditions. ClinVar contains an entry for this variant (Variation ID: 550894). This variant is present in population databases (rs747548016, ExAC 0.002%). This sequence change results in a premature translational stop signal in the BTD gene (p.Leu362*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 182 amino acids of the BTD protein.

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.