ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.588C>G (p.Tyr196Ter)

dbSNP: rs2065635815
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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 RCV001916129 SCV002178169 pathogenic Biotinidase deficiency 2021-12-03 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.Leu498Phefs*13) have been determined to be pathogenic (PMID: 17382128, 19728141, 29359854). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.Tyr216*) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 328 amino acid(s) of the BTD protein.

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