POLG G848S - GET-Evidence

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

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(POLG Gly848Ser)

Short summary


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 @ chr15:89865023: 0.0% (3/10758) in EVS
  • Frequency shown in summary reports: 0.0% (3/10758)



Other external references

  • GeneTests records for the POLG gene
    Progressive External Ophthalmoplegia with Mitochondrial DNA Dele
    Alpers-Huttenlocher Syndrome
    POLG-Related Disorders
    POLG-Related Sensory Ataxic Neuropathy, Dysarthria, and Ophthalm
  • Score: 0.998 (probably damaging)
    Web search results (128 hits -- see all)
  • European Journal of Human Genetics - Abundance of the POLG ...
    The G848S disease chromosomes of patients from Australia and New ... W748S, and likely also G848S mutations of POLG derive from single ancient ancestors, ...
  • POLG mutations in Alpers syndrome
    POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T ... mutant POLG alleles that cause Alpers syndrome are summarized. NEUROLOGY 2005;65:1493 ...
  • OMIM 174763 - DNA polimerasi gamma
    La umano POLG cDNA, isolata da un cellule HeLa genoteca di cDNA, ... identificarono una eterozigoti G848S mutazione nel gene POLG ed una eterozigoti arg334 ...
  • Supplemental Online Material
    W748S. B. Kindred A5. I. II. POLG. A467T. A467T. POLG. C. 1. A467T. 1. 2. 1 ... POLG. G848S. G848S. A467T. D. 1. 1. 2. 3. A467T. 2. 4. POLG. POLG. Supplemental Online Material ...
  • TDL Pathology Website - TDL Genetics: Tests A-B
    TDL Pathology - the largest independent provider of clinical laboratory diagnostic services in the UK ... Alpers Syndrome – 3 common POLG mutations (p.A467T + p.W748S + p.G848S) ...
  • Oxford Molecular Genetics Laboratory
    Initial testing for 3 common autosomal recessive POLG mutations ... restriction digest for the common POLG p.A467T, p.W748S & p.G848S mutations (these mutations are reported to ...
  • van Goethem, G (Gert)
    Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial ... we show that a second common POLG mutation, A467T, also shows common European ancestry: ...
  • POLG mutations in Alpers syndrome -- Nguyen et al., 10.1212 ...
    POLG mutations in Alpers syndrome. K. V. Nguyen PhD, E. stergaard MD, PhD, S. Holst Ravn ... of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T ...
  • Unbound MEDLINE | A novel POLG gene mutation in 4 children ...
    Unbound MEDLINE | A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Journal article. Search by keyword, journal, author or by EBM ...
  • Arch Neurol -- Abstract: A Novel POLG Gene Mutation in 4 ...
    Archives of Neurology, a monthly professional medical journal published by the American Medical Association, publishes original, peer-reviewed scientific ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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