ClinVar Miner

Submissions for variant NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) (rs80338684)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000078084 SCV000227008 pathogenic not provided 2014-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000078084 SCV000238754 pathogenic not provided 2018-09-07 criteria provided, single submitter clinical testing The c.98_104delGCGGCTGinsTCC pathogenic variant was found to occur in at least one allele of the BTD gene in approximately 50% of symptomatic children with profound biotinidase deficiency (Pomponio et al., 1995) The c.98_104delGCGGCTGinsTCC variant causes a frameshift starting with codon Cysteine 33, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 36 of the new reading frame, denoted p.Cys33PhefsX36. This variant is predicted to cause loss of normal protein function either through premature protein truncation or nonsense mediated mRNA decay.
Genetic Services Laboratory, University of Chicago RCV000001972 SCV000593791 pathogenic Biotinidase deficiency 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV000001972 SCV000754948 pathogenic Biotinidase deficiency 2018-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys33Phefs*36) in the BTD gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported as homozygous or in combination with other pathogenic BTD variants in several individuals affected with biotinidase deficiency (PMID: 7550325, 27657684, 27845546, 28281033). This variant is also known as c.98-104del7ins3 in the literature. ClinVar contains an entry for this variant (Variation ID: 1895). Loss-of-function variants in BTD are known to be pathogenic (PMID: 20083419). For these reasons, this variant has been classified as Pathogenic.
Myriad Women's Health, Inc. RCV000001972 SCV001194184 pathogenic Biotinidase deficiency 2019-12-20 criteria provided, single submitter clinical testing NM_000060.2(BTD):c.98_104del7ins3(C33Ffs*36) is classified as pathogenic in the context of biotinidase deficiency. Sources cited for classification include the following: PMID 7550325. Classification of NM_000060.2(BTD):c.98_104del7ins3(C33Ffs*36) is based on the following criteria: The variant causes a premature termination codon that is expected to be targeted by nonsense-mediated mRNA decay and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
Centogene AG - the Rare Disease Company RCV000001972 SCV001424377 pathogenic Biotinidase deficiency criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000078084 SCV001470477 pathogenic not provided 2019-09-19 criteria provided, single submitter clinical testing The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene, and not found in general population data.
OMIM RCV000001972 SCV000022130 pathogenic Biotinidase deficiency 1996-06-01 no assertion criteria provided literature only
GeneReviews RCV000001972 SCV000040405 pathologic Biotinidase deficiency 2011-03-15 no assertion criteria provided curation Converted during submission to Pathogenic.
Research and Development, ARUP Laboratories RCV000001972 SCV000042552 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.