KCNQ3 R777Q - GET-Evidence

Curation:
Currentness:

KCNQ3 R777Q

(KCNQ3 Arg777Gln)


Short summary

Tentatively evaluated as benign. Other missense mutations have been reported to cause benign familial neonatal seizures in a dominant manner, this was observed in a PGP participant with no reported family history of this phenotype.

Variant evidence
Computational -1

Polyphen 2 predicts a damaging effect, and other nearby missense variants have a pathogenic effect

Functional -
Case/Control

PGP participant should be recontacted to confirm lack of phenotype

Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Uncertain benign

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

Other missense mutations have been reported to cause benign familial neonatal seizures (from GeneTests: “generalized or focal tonic-clonic seizures starting around postnatal day three and spontaneously remitting within the first month of life”) in a dominant manner with incomplete penetrance (~80%).

Allele frequency

  • T @ chr8:133141798: 0.0% (1/10758) in EVS
  • T @ chr8:133210979: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.0% (1/10758)

Publications
 

Genomes
 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr8:133141798

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr8:133141798

 

Other external references
 

    PolyPhen-2
  • Score: 0.997 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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