ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)

dbSNP: rs1057517225
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
Counsyl RCV000411441 SCV000486941 likely pathogenic Biotinidase deficiency 2016-09-09 criteria provided, single submitter clinical testing
Baylor Genetics RCV000411441 SCV004211436 likely pathogenic Biotinidase deficiency 2023-08-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV004999364 SCV005625376 likely pathogenic not provided 2024-07-17 criteria provided, single submitter clinical testing The BTD c.1307_1308del (p.Glu436Alafs*8) variant alters the translational reading frame of the BTD mRNA and is predicted to cause the premature termination of BTD protein synthesis. This variant has not been reported in individuals with BTD-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic.

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.