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NM_001918.4(DBT):c.1202T>C (p.Ile401Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 9, 2020
Accession:
VCV000552910.2
Variation ID:
552910
Description:
single nucleotide variant
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NM_001918.4(DBT):c.1202T>C (p.Ile401Thr)

Allele ID
540623
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100206452 (GRCh38) GRCh38 UCSC
1: 100672008 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100672008A>G
NC_000001.11:g.100206452A>G
NM_001918.4:c.1202T>C NP_001909.3:p.Ile401Thr missense
NG_011852.2:g.48402T>C
Protein change
I401T
Other names
-
Canonical SPDI
NC_000001.11:100206451:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
dbSNP: rs1449113689
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 9, 2020 RCV000668260.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DBT - - GRCh38
GRCh37
445 458

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 18, 2017)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: unknown
Counsyl
Accession: SCV000792833.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(Sep 09, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV001575139.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces isoleucine with threonine at codon 401 of the DBT protein (p.Ile401Thr). The isoleucine residue is highly conserved and there is a … (more)

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
Molecular genetics of maple syrup urine disease in the Turkish population. Gorzelany K The Turkish journal of pediatrics 2009 PMID: 19480318

Text-mined citations for rs1449113689...

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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 May 13, 2021