NM_001918.4(DBT):c.901C>T (p.Arg301Cys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 10, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000079959.9

Allele description [Variation Report for NM_001918.4(DBT):c.901C>T (p.Arg301Cys)]

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

Gene:
DBT:dihydrolipoamide branched chain transacylase E2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p21.2
Genomic location:
Preferred name:
NM_001918.4(DBT):c.901C>T (p.Arg301Cys)
Other names:
p.R301C:CGT>TGT
HGVS:
  • NC_000001.11:g.100214855G>A
  • NG_011852.2:g.39999C>T
  • NM_001918.4:c.901C>T
  • NP_001909.3:p.Arg301Cys
  • NP_001909.3:p.Arg301Cys
  • NC_000001.10:g.100680411G>A
  • NM_001918.2:c.901C>T
  • NM_001918.3:c.901C>T
Protein change:
R301C
Links:
dbSNP: rs185492864
NCBI 1000 Genomes Browser:
rs185492864
Molecular consequence:
  • NM_001918.4:c.901C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
8

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000232151EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Nov 26, 2012)
germlineclinical testing

Citation Link,

SCV000238793GeneDxcriteria provided, single submitter
Pathogenic
(Jul 10, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown8not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000232151.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided8not providednot providednot provided

From GeneDx, SCV000238793.13

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

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 reported previously in multiple Norwegian patients with intermittent maple syrup urine disease (Brodtkorb et al., 2010). One patient who harbored R301C and a nonsense variant in the DBT gene was found to have 14% residual branched chain acyl-ketoacid dehydrogenase complex (BCKD) activity compared to wild-type, which led the authors to conclude that the R301C variant is associated with the residual enzyme activity (Brodtkorb et al., 2010).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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