PEX1 I696M - GET-Evidence


PEX1 I696M

(PEX1 Ile696Met)

Short summary

Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.

Variant evidence
Computational -1

Polyphen 2 predicts benign effect

Functional -

No controls reported, when using GET-Evidence as controls findings do not appear to be statistically significant.

See Walter C et al. 2001 (11389485).

Familial -
Clinical importance
Severity 5

Severe disorders of peroxisomes

Treatability 1
Penetrance 5

Presumed high penetrance



High clinical importance, Uncertain pathogenic

(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • C @ chr7:92132493: 2.7% (291/10756) in EVS
  • C @ chr7:91970428: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (291/10756)


Walter C, Gootjes J, Mooijer PA, Portsteffen H, Klein C, Waterham HR, Barth PG, Epplen JT, Kunau WH, Wanders RJ, Dodt G. Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels. Am J Hum Genet. 2001 Jul;69(1):35-48. Epub 2001 Jun 1. PubMed PMID: 11389485; PubMed Central PMCID: PMC1226046.

This variant was reported as a novel pathogenic finding in one patent (patient 8) in a screen of 22 cell lines from patients with peroxisome biogenesis disorders. It is unclear whether the authors are reporting a homozygote or heterozygote (and presumed compound heterozygote, although no other causal mutation in PEX1 is reported here for this patient). Controls are not mentioned.

Using GET-Evidence allele frequency information as a control and assuming this variant was only seen heterozygously, this observation is not statistically significant.



hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr7:92132493



huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr7:92132493



Other external references

  • rs35996821
  • Score: 0 (benign)
    Web search results (2 hits -- see all)
  • g777g (32 Search Results)
    Two polymorphisms have been identified in the PEX1 gene, G777G and a 16 bp insertion ... Frequencyb c.2088A>G p.I696M. 0.03 c.2331C>A p.G777G. 0.84. PEX1 c.3762T>C p.A1254A ...
  • Disorders of Peroxisome Biogenesis Due to Mutations in PEX1 ...
    Approximately 65% of the patients with PBD harbor mutations in PEX1. ... indicates a newly identiļ¬ed HsPEX1 allele in patient 8, which results in I696M. ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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