Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV001801035 | SCV002046342 | pathogenic | not provided | 2020-10-28 | criteria provided, single submitter | clinical testing | The frameshift variant causes the premature termination of BTD protein synthesis. It has been reported in an individual with biotinidase deficiency in the published literature (PMID: 26810761 (2016))). The frequency of this variant in the general population is consistent with pathogenicity. Therefore, the variant is classified as pathogenic. |
| Baylor Genetics | RCV003475096 | SCV004211439 | pathogenic | Biotinidase deficiency | 2023-07-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003475096 | SCV004293422 | pathogenic | Biotinidase deficiency | 2023-09-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly367Glnfs*23) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 177 amino acid(s) of the BTD protein. This variant is present in population databases (no rsID available, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 26810761). ClinVar contains an entry for this variant (Variation ID: 1330018). 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. For these reasons, this variant has been classified as Pathogenic. |