ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.477_478delinsAA (p.Cys159_His160delinsTer)

dbSNP: rs2125500515
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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 RCV001960500 SCV002237091 pathogenic Biotinidase deficiency 2020-10-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the BTD protein. Other variant(s) that disrupt this region (p.Ser311Argfs*23) have been determined to be pathogenic (PMID: 9396567, 10400129, 17185019). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with BTD-related conditions. The frequency data for this variant in the population databases is not available, as this variant may be reported as separate entries in the ExAC database. This sequence change creates a premature translational stop signal (p.Cys179*) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 365 amino acid(s) of the BTD protein.

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