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NM_000060.2(BTD):c.[1207T>G;1330G>C]

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Jul 7, 2021)
Last evaluated:
Jun 29, 2021
Accession:
VCV000001904.3
Variation ID:
1904
Description:
Haplotype
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NM_000060.2(BTD):c.[1207T>G;1330G>C]

Other names
BTD, PHE403VAL AND ASP444HIS
Functional consequence
-
Links
ClinGen: CA081767
OMIM: 609019.0009
This haplotype includes the following variants
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, single submitter Jun 29, 2021 RCV000001981.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
BTD - - GRCh38
GRCh37
427 464

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 29, 2021)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001748683.1
Submitted: (Jul 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
Variant summary: BTD c.[1147T>G;1270G>C] (p.[Phe383Val;Asp424His]) variant, also known as c.[1207T>G;1330G>C] (p.[Phe403Val;Asp444His]), is a complex allele and involves the alteration of multiple nucleotides. The allele frequency … (more)
Pathogenic
(Dec 04, 2012)
no assertion criteria provided
Method: clinical testing
Biotinidase deficiency
Allele origin: not provided
Research and Development, ARUP Laboratories
Accession: SCV000042659.1
Submitted: (Dec 18, 2012)
Comment:
These 2 pathogenic variations, p.F403V and p.D444H, were observed in haplotype, however D444H is often observed alone. When observed alone D444H is considered a mild … (more)
Evidence details
Comment:
Converted during submission to Pathogenic.
Pathogenic
(Jul 01, 1999)
no assertion criteria provided
Method: literature only
BIOTINIDASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000022139.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging. Hou YC Proceedings of the National Academy of Sciences of the United States of America 2020 PMID: 31980526
Effect of BTD gene variants on in vitro biotinidase activity. Borsatto T Molecular genetics and metabolism 2019 PMID: 31337602
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China. Liu Z American journal of medical genetics. Part A 2018 PMID: 29359854
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey. Seker Yilmaz B Journal of pediatric endocrinology & metabolism : JPEM 2018 PMID: 29353266
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics. Strovel ET Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28682309
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients. Borsatto T PloS one 2017 PMID: 28498829
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations. Wiltink RC European journal of human genetics : EJHG 2016 PMID: 27329734
Forty-eight novel mutations causing biotinidase deficiency. Procter M Molecular genetics and metabolism 2016 PMID: 26810761
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). Al-Jasmi FA JIMD reports 2016 PMID: 26589311
Biotinidase Deficiency Wolf B - 2016 PMID: 20301497
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years. Jay AM Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25144890
Disease variants in genomes of 44 centenarians. Freudenberg-Hua Y Molecular genetics & genomic medicine 2014 PMID: 25333069
Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. Tabor HK American journal of human genetics 2014 PMID: 25087612
Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011. Al Hosani H Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit 2014 PMID: 24932929
Optic neuropathy due to biotinidase deficiency in a 19-year-old man. Haines SR JAMA ophthalmology 2014 PMID: 24525934
Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. Al-Shamsi A Sultan Qaboos University medical journal 2014 PMID: 24516753
High incidence of partial biotinidase deficiency cases in newborns of Greek origin. Thodi G Gene 2013 PMID: 23644139
An informatics approach to analyzing the incidentalome. Berg JS Genetics in medicine : official journal of the American College of Medical Genetics 2013 PMID: 22995991
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Lazarin GA Genetics in medicine : official journal of the American College of Medical Genetics 2013 PMID: 22975760
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California. Cowan TM Molecular genetics and metabolism 2012 PMID: 22698809
Carrier testing for severe childhood recessive diseases by next-generation sequencing. Bell CJ Science translational medicine 2011 PMID: 21228398
A map of human genome variation from population-scale sequencing. 1000 Genomes Project Consortium. Nature 2010 PMID: 20981092
Analysis of mutations causing biotinidase deficiency. Pindolia K Human mutation 2010 PMID: 20556795
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population. Milánkovics I Journal of inherited metabolic disease 2010 PMID: 20549359
Technical standards and guidelines for the diagnosis of biotinidase deficiency. Cowan TM Genetics in medicine : official journal of the American College of Medical Genetics 2010 PMID: 20539236
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates. Wolf B Human mutation 2005 PMID: 15776412
Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies. Möslinger D European journal of pediatrics 2003 PMID: 14628140
Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency. Dobrowolski SF Molecular genetics and metabolism 2003 PMID: 12618081
Two new mutations in children affected by partial biotinidase deficiency ascertained by newborn screening. Funghini S Journal of inherited metabolic disease 2002 PMID: 12227467
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation. Mühl A European journal of human genetics : EJHG 2001 PMID: 11313766
Novel mutations cause biotinidase deficiency in Turkish children. Pomponio RJ Journal of inherited metabolic disease 2000 PMID: 10801053
Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Norrgard KJ Pediatric research 1999 PMID: 10400129
Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online. Norrgard KJ Human mutation 1998 PMID: 10206677
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Swango KL Human genetics 1998 PMID: 9654207
Profound biotinidase deficiency in two asymptomatic adults. Wolf B American journal of medical genetics 1997 PMID: 9375914
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States. Norrgard KJ Biochemical and molecular medicine 1997 PMID: 9232193
Human serum biotinidase. cDNA cloning, sequence, and characterization. Cole H The Journal of biological chemistry 1994 PMID: 7509806
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=BTD - - - -

Record last updated Oct 16, 2021