ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1092dup (p.Lys365fs)

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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 RCV002856318 SCV003211637 pathogenic Biotinidase deficiency 2022-06-05 criteria provided, single submitter clinical testing 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.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. This variant has not been reported in the literature in individuals affected with BTD-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys385Glnfs*13) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 159 amino acid(s) of the BTD protein.

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