ClinVar Miner

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

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Total submissions: 7
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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.
GeneReviews RCV000001972 SCV000040405 pathologic Biotinidase deficiency 2011-03-15 no assertion criteria provided curation Converted during submission to Pathogenic.
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.
OMIM RCV000001972 SCV000022130 pathogenic Biotinidase deficiency 1996-06-01 no assertion criteria provided literature only
Research and Development, ARUP Laboratories RCV000001972 SCV000042552 pathogenic Biotinidase deficiency 2017-02-17 no assertion criteria provided literature only

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