U.S. flag

An official website of the United States government

NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val) AND Episodic kinesigenic dyskinesia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 19, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001449664.1

Allele description [Variation Report for NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)]

NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)

Gene:
KCNA1:potassium voltage-gated channel subfamily A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12p13.32
Genomic location:
Preferred name:
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val)
HGVS:
  • NC_000012.12:g.4912565G>T
  • NG_011815.1:g.7659G>T
  • NM_000217.3:c.1187G>TMANE SELECT
  • NP_000208.2:p.Gly396Val
  • LRG_1297t1:c.1187G>T
  • LRG_1297:g.7659G>T
  • LRG_1297p1:p.Gly396Val
  • NC_000012.11:g.5021731G>T
Protein change:
G396V
Links:
dbSNP: rs2137673958
NCBI 1000 Genomes Browser:
rs2137673958
Molecular consequence:
  • NM_000217.3:c.1187G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Episodic kinesigenic dyskinesia (EKD)
Synonyms:
Familial paroxysmal dystonia; Paroxysmal kinesigenic dyskinesia
Identifiers:
MONDO: MONDO:0044202; MedGen: C1868682; Orphanet: 98809; OMIM: PS128200

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001623013Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(May 19, 2021) 		de novoresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.

Kegele J, Krüger J, Koko M, Lange L, Marco Hernandez AV, Martinez F, Münchau A, Lerche H, Lauxmann S.

Front Neurol. 2021;12:701351. doi: 10.3389/fneur.2021.701351.

PubMed [citation]
PMID:
34305802
PMCID:
PMC8297685

Details of each submission

From Experimental Epileptology, AG Lerche, Hertie Institute for Clinical Brain Research, SCV001623013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)

Description

ACMG Criteria: PM1, PM2, PM6, PP2, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024