G6PC R83C - GET-Evidence

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

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(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 -


Insufficiently evaluated pathogenic

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

Inheritance pattern


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)



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


Other external references

  • rs1801175
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • Gendia | Molecular Screening Tests
    gendia is an international network consisting of more than 100 laboratories. Gendia currently offers close to 2000 genetic tests.
  • 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)
  • 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 ...
  • 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 : ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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