Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000696396 | SCV000824957 | pathogenic | Biotinidase deficiency | 2017-11-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Leu498Phefs*13) that lies downstream of this variant has been determined to be pathogenic (PMID: 17382128). This suggests that deletion of this region of the BTD protein is causative of disease. This variant has not been reported in the literature in individuals with BTD-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the BTD gene (p.Tyr494Ilefs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 50 amino acids of the BTD protein. |
Baylor Genetics | RCV000696396 | SCV004211414 | likely pathogenic | Biotinidase deficiency | 2023-10-07 | criteria provided, single submitter | clinical testing |