ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.76G>T (p.Glu26Ter)

dbSNP: rs397514336
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474466 SCV004211468 pathogenic Biotinidase deficiency 2023-04-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003474466 SCV005834610 pathogenic Biotinidase deficiency 2024-08-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu46*) 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 premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 17185019). For these reasons, this variant has been classified as Pathogenic.

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