Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000633683 | SCV000754946 | pathogenic | Biotinidase deficiency | 2022-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr196Lysfs*68) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 348 amino acid(s) of the BTD protein. For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 528478). This premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 22698809). This variant is not present in population databases (gnomAD no frequency). |
Counsyl | RCV000633683 | SCV000791041 | likely pathogenic | Biotinidase deficiency | 2017-04-25 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000633683 | SCV004211434 | pathogenic | Biotinidase deficiency | 2023-08-21 | criteria provided, single submitter | clinical testing |