Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003155628 | SCV003844333 | likely pathogenic | Biotinidase deficiency | 2023-02-04 | criteria provided, single submitter | clinical testing | Variant summary: BTD c.755G>A (p.Trp252X) results in a premature termination codon and is predicted to cause a truncation of the encoded protein, which is a commonly known mechanisms for disease. This variant is predicted to disrupt the last 272 amino acids in the protein sequence. Truncations downstream of this position have been classified as pathogenic within ClinVar (e.g. c.873del [p.Ser291fs], c.1025T>A [p.Leu342Ter]). The variant was absent in 251444 control chromosomes (gnomAD). c.755G>A has been reported in the literature in at least one compound heterozygous individual affected with Biotinidase Deficiency (Procter_2016). These data do not allow any conclusion about variant significance. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Baylor Genetics | RCV003155628 | SCV004211430 | pathogenic | Biotinidase deficiency | 2023-09-02 | criteria provided, single submitter | clinical testing |