ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)

dbSNP: rs672601248
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169138 SCV000220356 likely pathogenic Biotinidase deficiency 2014-05-28 criteria provided, single submitter literature only
Eurofins Ntd Llc (ga) RCV000728443 SCV000856021 pathogenic not provided 2017-07-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000169138 SCV001421739 pathogenic Biotinidase deficiency 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp409Cysfs*91) in the BTD gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 135 amino acid(s) of the BTD protein. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This premature translational stop signal has been observed in individual(s) with biotinidase deficiency (PMID: 8894703). 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. For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000728443 SCV002774330 pathogenic not provided 2021-08-10 criteria provided, single submitter clinical testing This frameshift variant causes the premature termination of BTD protein synthesis. In addition, it has been reported in a child with biotinidase deficiency in the published literature (PMID: 8894703 (1996)). Based on the available information, this variant is classified as pathogenic.
Baylor Genetics RCV000169138 SCV004211415 pathogenic Biotinidase deficiency 2024-03-09 criteria provided, single submitter clinical testing
OMIM RCV000169138 SCV000022131 pathogenic Biotinidase deficiency 1996-10-01 no assertion criteria provided literature only

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