Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor Genetics | RCV000411441 | SCV004211436 | likely pathogenic | Biotinidase deficiency | 2023-08-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV004999364 | SCV005625376 | likely pathogenic | not provided | 2024-07-17 | criteria provided, single submitter | clinical testing | The BTD c.1307_1308del (p.Glu436Alafs*8) variant alters the translational reading frame of the BTD mRNA and is predicted to cause the premature termination of BTD protein synthesis. This variant has not been reported in individuals with BTD-related conditions in the published literature. This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic. |
Labcorp Genetics |
RCV000411441 | SCV005729087 | pathogenic | Biotinidase deficiency | 2024-11-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu436Alafs*8) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 108 amino acid(s) of the BTD protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant disrupts a region of the BTD protein in which other variant(s) (p.Asp543Glu) have been determined to be pathogenic (PMID: 25174816, 25967232, 28498829). 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. |
Counsyl | RCV000411441 | SCV000486941 | likely pathogenic | Biotinidase deficiency | 2016-09-09 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |