NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val) AND Early infantile epileptic encephalopathy 14

Clinical significance:Likely pathogenic (Last evaluated: Aug 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001004694.1

Allele description [Variation Report for NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)]

NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)

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.2341C>G (p.Leu781Val)
HGVS:
  • NC_000009.12:g.135775407C>G
  • NG_033070.1:g.78223C>G
  • NM_001272003.2:c.2206C>G
  • NM_020822.3:c.2341C>GMANE SELECT
  • NP_001258932.1:p.Leu736Val
  • NP_065873.2:p.Leu781Val
  • NC_000009.11:g.138667253C>G
  • NM_020822.2:c.2341C>G
Protein change:
L736V
Links:
Molecular consequence:
  • NM_001272003.2:c.2206C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020822.3:c.2341C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Early infantile epileptic encephalopathy 14 (DEE14)
Synonyms:
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
Identifiers:
MONDO: MONDO:0013989; MedGen: C3554195; Orphanet: 293181; OMIM: 614959

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001164156Génétique des Maladies du Développement, Hospices Civils de Lyoncriteria provided, single submitter
Likely pathogenic
(Aug 7, 2017)
de novoclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot 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, SCV001164156.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 16, 2021

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