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NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000225160.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)]

NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)
HGVS:
  • NC_000012.12:g.51699663T>C
  • NG_021180.3:g.114706T>C
  • NM_001177984.3:c.800T>C
  • NM_001330260.2:c.800T>CMANE SELECT
  • NM_001369788.1:c.800T>C
  • NM_014191.4:c.800T>C
  • NP_001171455.1:p.Leu267Ser
  • NP_001317189.1:p.Leu267Ser
  • NP_001356717.1:p.Leu267Ser
  • NP_055006.1:p.Leu267Ser
  • LRG_1389t1:c.800T>C
  • LRG_1389t2:c.800T>C
  • LRG_1389:g.114706T>C
  • LRG_1389p1:p.Leu267Ser
  • LRG_1389p2:p.Leu267Ser
  • NC_000012.11:g.52093447T>C
  • NM_014191.3:c.800T>C
Protein change:
L267S
Links:
dbSNP: rs878853250
NCBI 1000 Genomes Browser:
rs878853250
Molecular consequence:
  • NM_001177984.3:c.800T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.800T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.800T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.800T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Developmental regression
Synonyms:
C1836830
Identifiers:
MedGen: C1836830; Human Phenotype Ontology: HP:0002376
Name:
Developmental stagnation at onset of seizures
Identifiers:
MedGen: C1836829; Human Phenotype Ontology: HP:0006834
Name:
Generalized tonic seizure
Synonyms:
Generalized tonic seizures
Identifiers:
MedGen: C1836508; Human Phenotype Ontology: HP:0010818
Name:
Intellectual disability, severe
Identifiers:
MedGen: C0036857; Human Phenotype Ontology: HP:0010864
Name:
Epileptic encephalopathy
Identifiers:
MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282046Lyon Laboratory, Cold Spring Harbor Laboratory
no assertion criteria provided
Pathogenicde novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot provided1noclinical testing

Details of each submission

From Lyon Laboratory, Cold Spring Harbor Laboratory, SCV000282046.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednoclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyes1not providednot provided1not providednot providednot provided

Last Updated: Feb 20, 2024