Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001947003 | SCV002241310 | pathogenic | Biotinidase deficiency | 2022-07-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg462Glyfs*39) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the BTD protein. This variant is present in population databases (rs397514420, gnomAD 0.01%). This premature translational stop signal has been observed in individuals with biotinidase deficiency (PMID: 19728141, 30616616). ClinVar contains an entry for this variant (Variation ID: 1456933). 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. |
Baylor Genetics | RCV001947003 | SCV004211429 | likely pathogenic | Biotinidase deficiency | 2023-09-07 | criteria provided, single submitter | clinical testing |