NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Jul 6, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000716218.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)]

NM_020822.3(KCNT1):c.2321C>T (p.Ala774Val)

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.2321C>T (p.Ala774Val)
HGVS:
  • NC_000009.12:g.135775387C>T
  • NG_033070.1:g.78203C>T
  • NM_001272003.2:c.2186C>T
  • NM_020822.3:c.2321C>TMANE SELECT
  • NP_001258932.1:p.Ala729Val
  • NP_065873.2:p.Ala774Val
  • NC_000009.11:g.138667233C>T
  • NM_020822.2:c.2321C>T
Protein change:
A729V
Links:
dbSNP: rs777479133
NCBI 1000 Genomes Browser:
rs777479133
Molecular consequence:
  • NM_001272003.2:c.2186C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.2321C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000847055Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Jul 6, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000847055.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The p.A774V variant (also known as c.2321C>T), located in coding exon 20 of the KCNT1 gene, results from a C to T substitution at nucleotide position 2321. The alanine at codon 774 is replaced by valine, an amino acid with similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 6, 2021

Support Center