BCKDHB E372X - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

BCKDHB E372X

(BCKDHB Glu372Stop)


Short summary

Maple Syrup Urine Disease

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (8 hits -- see all)
  • Ambry Test: Ashkenazi Jewish FlexPanel Genetic Testing for ...
    The Ambry Test: Ashkenazi Jewish FlexPanel is a convenient, high-sensitivity screening ... Urine Disease (BCKDHA, BCKDHB) Y438N, R183P, E372X, G278S. 1 in 80 > ...
    ambrygen.com/.../test_Ashkenazi_Jewish_Panel.asp
  • Maple Syrup Urine Disease: Identification and Carrier ...
    ... linked markers on chromosome 6q14, the BCKDHB gene encoding the E1β subunit was sequenced. ... with the intermediate phenotype and E372X is associated with the classic phenotype. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1226071
  • doi:10.1086/323677
    the BCKDHB locus, we first identified candidate STR ... cated by the nonsense mutation E372X are shown in white. gests that the identification of this mutation will facilitate ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Ashkenazi Jewish Panel 10 & 11
    (BCKDHA, BCKDHB) Mucolipidosis Type IV (MCOLN1) Niemann-Pick Disease ... Y438N, R183P, E372X, G278S. Delta6.4kb, IVS3-2A>G. L302P,R496L, DeltaR608, 1bpdelfs330 ...
    ambrygen.com/.../PDFforms/1.2.1.23 AJ 1.pdf
  • DNA Tests (Descriptions and CPT codes) " Human Genetics " BUMC
    Boston University and the City of Boston. Maternal Serum Screening and Amniotic Fluid ... MAPLE SYRUP URINE DISEASE TYPE 1B (BCKDHB) 83890(1);83891(1);83900(1);83901(1);83894(1) ...
    www.bumc.bu.edu/hg/dnadiagnostics/dnatestdescription

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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