GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KCNQ3 L45Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
KCNQ3 T81Ninsufficiently evaluated none, f=0.009unknown var-GS19129-1100-36-ASM
KCNQ3 G263Vinsufficiently evaluated pathogenicunknown

(13 web hits)

KCNQ3 E414Ginsufficiently evaluated none, f=0.015unknown CGI sample GS00253-DNA_E01_200_37
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS18947-1100-36-ASM
KCNQ3 F534Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
KCNQ3 P574Suncertain benignundefined

Reported to cause benign familial neonatal seizures (BFNS), as recorded in ClinVar by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000020597/). The relevant GeneReviews article (http://www.ncbi.nlm.nih.gov/books/NBK201978/) lists this variant in Table 3, however, the variant is described as coincidentally observed in cases (another variant was believed pathogenic), seen in controls as well as cases, and has no functional difference from wildtype. The GeneReviews authors recorded it as “possibly a variant of unknown significance”, which means the ClinVar category of “pathogenic” is mislabeled. On the basis of allele frequency we can also consider such an effect disproven, as 1 in 150 with European ancestry carry this variant – far higher than the prevalence of BNFS.

KCNQ3 Q653Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
KCNQ3 H715Rinsufficiently evaluated not reviewed, f=0.000unknown
KCNQ3 G723Einsufficiently evaluated not reviewed, f=0.004unknown var-GS19704-1100-36-ASM
KCNQ3 T740Minsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
KCNQ3 D755Ninsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
KCNQ3 P769Hinsufficiently evaluated not reviewed, f=0.009unknown var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
KCNQ3 R777Quncertain benign, f=0.000unknown

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.

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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