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NM_001918.4(DBT):c.901C>T (p.Arg301Cys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 20, 2020
Accession:
VCV000094016.11
Variation ID:
94016
Description:
single nucleotide variant
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NM_001918.4(DBT):c.901C>T (p.Arg301Cys)

Allele ID
99918
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p21.2
Genomic location
1: 100214855 (GRCh38) GRCh38 UCSC
1: 100680411 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.100680411G>A
NC_000001.11:g.100214855G>A
NG_011852.2:g.39999C>T
NM_001918.4:c.901C>T NP_001909.3:p.Arg301Cys missense
Protein change
R301C
Other names
p.R301C:CGT>TGT
Canonical SPDI
NC_000001.11:100214854:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00041
Trans-Omics for Precision Medicine (TOPMed) 0.00022
Exome Aggregation Consortium (ExAC) 0.00080
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
ClinGen: CA275397
dbSNP: rs185492864
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Jul 10, 2018 RCV000079959.9
Pathogenic/Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Oct 20, 2020 RCV000179836.13
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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
444 457

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000893166.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Pathogenic
(Jul 10, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000238793.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
Mutations in the DBT gene are associated with the autosomal recessive disorder maple syrup urine disease.The R301C missense variants in the DBT gene has been … (more)
Pathogenic
(Nov 26, 2012)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000232151.5
Submitted: (Jun 30, 2017)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Dec 20, 2019)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001194107.2
Submitted: (Jun 18, 2020)
Evidence details
Publications
PubMed (3)
Comment:
NM_001918.3(DBT):c.901C>T(R301C) is classified as likely pathogenic in the context of maple syrup urine disease type II. Sources cited for classification include the following: PMID 20570198, … (more)
Pathogenic
(Oct 20, 2020)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
Allele origin: germline
Invitae
Accession: SCV000835510.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces arginine with cysteine at codon 301 of the DBT protein (p.Arg301Cys). The arginine residue is highly conserved and there is a … (more)
Pathogenic
(Mar 28, 2017)
criteria provided, single submitter
Method: clinical testing
Maple syrup urine disease
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000712806.1
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The p.Arg301Cys (NM001918.3 c.901C>T) variant in DBT has been reported in 7 comp ound heterozygous individuals with intermittent maple syrup urine disease (Brodt korb 2010, … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
SSIEM 2016 Annual Symposium - Abstracts : Rome, Italy, September 2016. - Journal of inherited metabolic disease 2016 PMID: 27518768
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
Intermittent maple syrup urine disease: two case reports. Axler O Pediatrics 2014 PMID: 24394677
Phenylbutyrate therapy for maple syrup urine disease. Brunetti-Pierri N Human molecular genetics 2011 PMID: 21098507
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation. Brodtkorb E Molecular genetics and metabolism 2010 PMID: 20570198
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DBT - - - -

Text-mined citations for rs185492864...

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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 Sep 18, 2021