Table 7. [KCNQ3 Pathogenic Variants Referenced in This GeneReview]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_004519.3 NP_004510.1	c.680G>A	p.Arg227Gln	Reported in assoc w/DD & ASD [Deciphering Developmental Disorders Study 2017, Sands et al 2019]
c.688C>T	p.Arg230Cys	Pathogenic variants at this amino acid site have been reported in persons w/ASD & DD w/ & w/o epilepsy [Rauch et al 2012, Allen et al 2013, Bosch et al 2016, Deciphering Developmental Disorders Study 2017, Sands et al 2019, Trinh et al 2019].
c.688C>A	p.Arg230Ser
c.689G>A	p.Arg230His
c.989G>T	p.Arg330Leu	Pathogenic variants at this amino acid site have been reported in a family w/early-onset epilepsy & neurocognitive deficits (p.Arg330Leu) & in 2 families w/typical SLFNE (p.Arg330Cys) [Li et al 2008, Miceli et al 2015a].
c.988C>T	p.Arg330Cys
c.1599dup	p.Phe534IlefsTer15	Homozygous KCNQ3 frameshift pathogenic variant identified in a child w/neonatal-onset epilepsy & DD [Lauritano et al 2019]

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

NM_004519.3
NP_004510.1

c.680G>A

p.Arg227Gln

Reported in assoc w/DD & ASD [Deciphering Developmental Disorders Study 2017, Sands et al 2019]

c.688C>T

p.Arg230Cys

Pathogenic variants at this amino acid site have been reported in persons w/ASD & DD w/ & w/o epilepsy [Rauch et al 2012, Allen et al 2013, Bosch et al 2016, Deciphering Developmental Disorders Study 2017, Sands et al 2019, Trinh et al 2019].

c.688C>A

p.Arg230Ser

c.689G>A

p.Arg230His

c.989G>T

p.Arg330Leu

Pathogenic variants at this amino acid site have been reported in a family w/early-onset epilepsy & neurocognitive deficits (p.Arg330Leu) & in 2 families w/typical SLFNE (p.Arg330Cys) [Li et al 2008, Miceli et al 2015a].

c.988C>T

p.Arg330Cys

c.1599dup

p.Phe534IlefsTer15

Homozygous KCNQ3 frameshift pathogenic variant identified in a child w/neonatal-onset epilepsy & DD [Lauritano et al 2019]

From: KCNQ3-Related Disorders

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.