OFD1 Q545R - GET-Evidence


OFD1 Q545R

(OFD1 Gln545Arg)

Short summary

Rare, tentatively evaluated as benign. Polyphen 2 predicts damaging effect, but this is variant found in a healthy male PGP participant.

Variant evidence
Computational -1

Polyphen 2 predicts damaging effect

Functional -
Case/Control 2

Present in an unaffected male PGP participant

Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Low clinical importance, Uncertain benign

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

Inheritance pattern


Summary of published research, and additional commentary

Other variants in this gene are associated with diseases (Joubert syndrome and Oral-Facial-Digital Syndrome), but predicted effects are inconsistent with the presence of this variant in a healthy male PGP participant.

Allele frequency

  • G @ chrX:13776547: 0.0% (1/8761) in EVS
  • G @ chrX:13686467: 1.1% (1/92) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (1/8761)



huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chrX:13776547


Other external references

  • GeneTests records for the OFD1 gene
    Joubert Syndrome
    OFD1-Related Joubert Syndrome
    Oral-Facial-Digital Syndrome Type I
  • Score: 0.991 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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