ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1220_1224del (p.Leu407fs)

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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 RCV005196823 SCV005841837 pathogenic Biotinidase deficiency 2024-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu427Argfs*16) in the BTD gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). 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. For these reasons, this variant has been classified as Pathogenic.

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