ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.901dup (p.Trp301fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002814793 SCV003198533 pathogenic Biotinidase deficiency 2022-05-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp321Leufs*4) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 223 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.

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