ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.-18del

dbSNP: rs2064260290
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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 RCV000794161 SCV000933551 pathogenic Biotinidase deficiency 2018-12-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg15Aspfs*55) in the BTD gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BTD-related conditions. Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). For these reasons, this variant has been classified as Pathogenic.

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