G6PC R83C - GET-Evidence

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

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Curation:
Currentness:

G6PC R83C

(G6PC Arg83Cys)


Short summary

Reported to cause Glycogen Storage Disease Type 1A in a recessive manner

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

  • T @ chr17:41055964: 0.0% (4/10758) in EVS
  • Frequency shown in summary reports: 0.0% (4/10758)

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr17:41055964

 

Other external references
 

    dbSNP
  • rs1801175
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 1.0 (probably damaging)
    Web search results (73 hits -- see all)
  • Ambry Test: Glycogen Storage Disease Types Ia & Ib, GSDI ...
    A G6PC mutation p.R83C is carried by approximately 1/71 Ashkenazi Jewish people, ... Approximately 99% of G6PC mutations in GSDIa and 98% of SLC37A4 mutations in ...
    ambrygen.com/Clinical_Diagnostic_and_Carrier_Testing/...
  • Mutations in the Glucose-6-Phosphatase-α (G6PC) Gene that ...
    G6PC is a highly hydrophobic glycoprotein, anchored in the membrane ... Similarly, a compound heterozygous patient having p.R83C and p.N264K null mutations does not manifest ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2475600
  • Bloom syndrome
    20. GM11468. Glycogen Storage. B-lymphocyte. G6PC. R83C (3/3) Q347X (3/3) ... 21. GM11470. Glycogen Storage. B-lymphocyte. G6PC. R83C (3/3) PCR/SNPE/CE ...
    ccr.coriell.org/Excel/NIGMS/1_qc.xls
  • Ambry Test: Ashkenazi Jewish FlexPanel Genetic Testing for ...
    The Ambry Test: Ashkenazi Jewish FlexPanel is a convenient, high-sensitivity ... Glycogen Storage Disease 1A (G6PC) R83C, Q347X. 1 in 71. 99% 1 in 7001 ...
    ambrygen.com/.../test_Ashkenazi_Jewish_Panel.asp
  • Glycogen storage disease type 1A - SNPedia
    It is caused by a deficiency of the enzyme glucose-6-phosphatase G6PC. ... rs1801175, also known as R83C, represents pretty much the only mutation leading ...
    www.snpedia.com/index.php/Glycogen_storage_disease_type_1A
  • Mendelian Inheritance in Man Document Reader
    The R83C mutation (232200.0002) has a high frequency in Ashkenazi Jews (Parvari ... 0004 GLYCOGEN STORAGE DISEASE Ia G6PC, GLN347TER In a patient with type Ia ...
    www.angis.org.au/bin/Databases/BIRX/birx_doc?phtomim+232200
  • Gendia | Molecular Screening Tests
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
    www.gendia.net/tests_tab3.html
  • 3130 - Glycogen Storage Disease Type 1A (GSD1A) - G6PC ...
    The absence of the key enzyme glucose-6-phosphatase (G6Pase) in the homeostatic regulation of blood glucose concentration causes glycogen storage disease type 1A (GSD1A)
    www.bcm.edu/geneticlabs/tests/mito/GSD1A.html
  • Type I Glycogen Storage Diseases
    One compound heterozygote patient has been identified harboring two mutations in G6PC where one was the R83C mutation and the second was arginine ...
    themedicalbiochemistrypage.org/vongierkedisease.html
  • משרד הבריאות
    ןיא ונתחפשמבו היצטומה לש אשנ וניא גוזה ןבש החנהב, ףסונ עדימ לבקל ... םהנעב רשק שי םאהו G6PC ןגב R83C היצטומה יבגל םג ךכ.ןגה. ןונמא הדות :ןכות. ךלש הבוגתה :םש : ...
    www.health.gov.il/forums/AddMsg.asp?fid=14&mid=7575549

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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