ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.534_536del (p.Val179del)

dbSNP: rs397514373
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
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985648 SCV001134043 likely pathogenic not provided 2018-09-20 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/277192 chr). Found in at least one symptomatic patient. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Labcorp Genetics (formerly Invitae), Labcorp RCV001868341 SCV002237374 pathogenic Biotinidase deficiency 2023-11-17 criteria provided, single submitter clinical testing This variant, c.594_596del, results in the deletion of 1 amino acid(s) of the BTD protein (p.Val199del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with biotinidase deficiency (PMID: 9396567, 25174816). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 587749). This variant disrupts the p.Val199 amino acid residue in BTD. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12359137, 15060693, 25174816, 28498829). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as 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.