NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) AND Epileptic encephalopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 16, 2016
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000416947.9

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)]

NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)

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.5614C>T (p.Arg1872Trp)

HGVS:

NC_000012.12:g.51807100C>T
NG_021180.3:g.222143C>T
NM_001177984.3:c.5491C>T
NM_001330260.2:c.5614C>TMANE SELECT
NM_001369788.1:c.5491C>T
NM_014191.4:c.5614C>T
NP_001171455.1:p.Arg1831Trp
NP_001317189.1:p.Arg1872Trp
NP_001356717.1:p.Arg1831Trp
NP_055006.1:p.Arg1872Trp
NP_055006.1:p.Arg1872Trp
LRG_1389t1:c.5614C>T
LRG_1389t2:c.5614C>T
LRG_1389:g.222143C>T
LRG_1389p1:p.Arg1872Trp
LRG_1389p2:p.Arg1872Trp
NC_000012.11:g.52200884C>T
NM_014191.2:c.5614C>T
NM_014191.3:c.5614C>T
Q9UQD0:p.Arg1872Trp
p.R1872W

Protein change:

R1831W

Links:

UniProtKB: Q9UQD0#VAR_071681; dbSNP: rs796053228

NCBI 1000 Genomes Browser:

rs796053228

Molecular consequence:

NM_001177984.3:c.5491C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330260.2:c.5614C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369788.1:c.5491C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014191.4:c.5614C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0040]
Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
Normal voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0032]
Overall gain-of-function effect with respect to biophysical channel activity [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0140]
Slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0048]

Observations:

Condition(s)

Name:: Epileptic encephalopathy
Identifiers:: MedGen: C0543888; Human Phenotype Ontology: HP:0200134

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000494531	Neurogenetics Laboratory - MEYER, AOU Meyer	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 16, 2016)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000494531

Neurogenetics Laboratory - MEYER, AOU Meyer

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 16, 2016)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	1	no	clinical 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 Neurogenetics Laboratory - MEYER, AOU Meyer, SCV000494531.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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