NM_020822.3(KCNT1):c.1421G>A (p.Arg474His) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Nov 20, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624507.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)]

NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)

Gene:
KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
HGVS:
  • NC_000009.12:g.135768848G>A
  • NG_033070.1:g.71664G>A
  • NM_001272003.2:c.1286G>A
  • NM_020822.3:c.1421G>AMANE SELECT
  • NP_001258932.1:p.Arg429His
  • NP_065873.2:p.Arg474His
  • NC_000009.11:g.138660694G>A
  • NM_001272003.1:c.1286G>A
  • NM_020822.2:c.1421G>A
Protein change:
R429H; ARG474HIS
Links:
OMIM: 608167.0003
Molecular consequence:
  • NM_001272003.2:c.1286G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.1421G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000741205Ambry Geneticscriteria provided, single submitter
Pathogenic
(Nov 20, 2015)
germlineclinical testing

PubMed (7)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Caucasiangermlineyes2not providednot provided2not providedclinical testing

Citations

PubMed

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

Barcia G, Fleming MR, Deligniere A, Gazula VR, Brown MR, Langouet M, Chen H, Kronengold J, Abhyankar A, Cilio R, Nitschke P, Kaminska A, Boddaert N, Casanova JL, Desguerre I, Munnich A, Dulac O, Kaczmarek LK, Colleaux L, Nabbout R.

Nat Genet. 2012 Nov;44(11):1255-9. doi: 10.1038/ng.2441. Epub 2012 Oct 21.

PubMed [citation]
PMID:
23086397
PMCID:
PMC3687547

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N.

Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3.

PubMed [citation]
PMID:
26140313
See all PubMed Citations (7)

Details of each submission

From Ambry Genetics, SCV000741205.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (7)
2Caucasian1not providednot providedclinical testing PubMed (7)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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