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NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 1, 2019)
Last evaluated:
Jan 5, 2018
Accession:
VCV000001903.3
Variation ID:
1903
Description:
single nucleotide variant
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NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)

Allele ID
16942
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3p25.1
Genomic location
3: 15645322 (GRCh38) GRCh38 UCSC
3: 15686829 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.15686829A>C
NM_001281723.3:c.1406A>C NP_001268652.2:p.Asn469Thr missense
NM_001281724.3:c.1406A>C NP_001268653.2:p.Asn469Thr missense
... more HGVS
Protein change
N469T
Other names
N489T
Canonical SPDI
NC_000003.12:15645321:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA278014
OMIM: 609019.0008
dbSNP: rs104893692
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 4 criteria provided, multiple submitters, no conflicts Jan 5, 2018 RCV000001980.5
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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
Uncertain significance
(Jan 05, 2018)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000800649.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
Method: clinical testing
Biotinidase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000441834.3
Submitted: (Feb 01, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The BTD c.1466A>C (Asn489Thr) variant has been reported in three studies and was found in a homozygous state in one individual with 10.8% of the … (more)
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: SCV000042691.2
Submitted: (Mar 10, 2017)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jun 01, 1998)
no assertion criteria provided
Method: literature only
BIOTINIDASE DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000022138.2
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
Analysis of mutations causing biotinidase deficiency. Pindolia K Human mutation 2010 PMID: 20556795
Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency. Pomponio RJ Molecular genetics and metabolism 1998 PMID: 9705240

Text-mined citations for rs104893692...

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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