NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp) AND Developmental and epileptic encephalopathy, 13

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: May 28, 2019
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:: RCV000239726.11

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]

Condition(s)

Name:: Developmental and epileptic encephalopathy, 13 (DEE13)
Synonyms:: Early infantile epileptic encephalopathy 13; SCN8A-Related Epilepsy
Identifiers:: MONDO: MONDO:0013801; MedGen: C3281191; Orphanet: 442835; OMIM: 614558

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000298215	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 25568300, 24888894, 25951352
SCV001138742	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Pathogenic (May 28, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298215

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (3)
[See all records that cite these PMIDs]

SCV001138742

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2017)

Pathogenic
(May 28, 2019)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

The phenotypic spectrum of SCN8A encephalopathy.

Larsen J, Carvill GL, Gardella E, Kluger G, Schmiedel G, Barisic N, Depienne C, Brilstra E, Mang Y, Nielsen JE, Kirkpatrick M, Goudie D, Goldman R, Jähn JA, Jepsen B, Gill D, Döcker M, Biskup S, McMahon JM, Koeleman B, Harris M, Braun K, et al.

Neurology. 2015 Feb 3;84(5):480-9. doi: 10.1212/WNL.0000000000001211. Epub 2015 Jan 7.

PubMed [citation]

PMID:: 25568300
PMCID:: PMC4336074

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H.

Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. Epub 2014 Jun 2.

PubMed [citation]

PMID:: 24888894

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000298215.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

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

From Mendelics, SCV001138742.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 10, 2024

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