NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln) AND Seizures

Clinical significance:Pathogenic (Last evaluated: May 17, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001420735.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)]

NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)

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.2849G>A (p.Arg950Gln)
HGVS:
  • NC_000009.12:g.135784031G>A
  • NG_033070.1:g.86847G>A
  • NM_001272003.2:c.2714G>A
  • NM_020822.3:c.2849G>AMANE SELECT
  • NP_001258932.1:p.Arg905Gln
  • NP_065873.2:p.Arg950Gln
  • NC_000009.11:g.138675877G>A
  • NM_020822.2:c.2849G>A
Protein change:
R905Q
Links:
Molecular consequence:
  • NM_001272003.2:c.2714G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.2849G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001623055Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Pathogenic
(May 17, 2021)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

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

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001623055.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)

Description

missense variant absnet from gnomad. Previously described in the litterature. de novo

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 20, 2021

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