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NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 24, 2018
Accession:
VCV000156003.3
Variation ID:
156003
Description:
single nucleotide variant
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NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)

Allele ID
165807
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.1
Genomic location
3: 15644557 (GRCh38) GRCh38 UCSC
3: 15686064 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000060.2:c.701C>T
NC_000003.11:g.15686064C>T
NC_000003.12:g.15644557C>T
... more HGVS
Protein change
T214I
Other names
-
Canonical SPDI
NC_000003.12:15644556:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA278439
dbSNP: rs587783005
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 24, 2018 RCV000144060.3
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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
Likely pathogenic
(Oct 09, 2017)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000915027.1
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The BTD c.701C>T (p.Thr234Ile) missense variant has been reported in at least three individuals, including in a homozygous state in one individual with profound biotinidase … (more)
Pathogenic
(Oct 24, 2018)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: germline
Invitae
Accession: SCV000933006.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces threonine with isoleucine at codon 234 of the BTD protein (p.Thr234Ile). The threonine residue is highly conserved and there is a … (more)
Pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Biotinidase deficiency
Allele origin: germline
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories
Accession: SCV000189133.1
Submitted: (Aug 13, 2014)
Evidence details
Publications
PubMed (1)
Pathogenic
(Feb 17, 2017)
no assertion criteria provided
Method: literature only
Biotinidase deficiency
(Autosomal recessive inheritance)
Allele origin: germline
Research and Development, ARUP Laboratories
Accession: SCV000845814.1
Submitted: (Mar 10, 2017)
Evidence details
Publications
PubMed (1)
Comment:
Enzyme activities @ 2.3 U/L with c.1330G>C;p.D444H in one patient. Enzyme activity @ 0.8 U/L in a homozygous patient.

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
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening. Wolf B Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27657684
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
Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Li H Molecular genetics and metabolism 2014 PMID: 24797656

Text-mined citations for rs587783005...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021