NM_014191.4(SCN8A):c.647T>A (p.Val216Asp) AND Developmental and epileptic encephalopathy, 13

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000239757.10

Allele description [Variation Report for NM_014191.4(SCN8A):c.647T>A (p.Val216Asp)]

NM_014191.4(SCN8A):c.647T>A (p.Val216Asp)

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_014191.4(SCN8A):c.647T>A (p.Val216Asp)

HGVS:

NC_000012.12:g.51688790T>A
NG_021180.3:g.103833T>A
NM_001177984.3:c.647T>A
NM_001330260.2:c.615-215T>AMANE SELECT
NM_001369788.1:c.615-215T>A
NM_014191.4:c.647T>A
NP_001171455.1:p.Val216Asp
NP_055006.1:p.Val216Asp
LRG_1389t1:c.615-215T>A
LRG_1389t2:c.647T>A
LRG_1389:g.103833T>A
LRG_1389p2:p.Val216Asp
NC_000012.11:g.52082574T>A
NM_014191.3:c.647T>A
Q9UQD0:p.Val216Asp

Protein change:

V216D

Links:

UniProtKB: Q9UQD0#VAR_071674; dbSNP: rs879255696

NCBI 1000 Genomes Browser:

rs879255696

Molecular consequence:

NM_001330260.2:c.615-215T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001369788.1:c.615-215T>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001177984.3:c.647T>A - missense variant - [Sequence Ontology: SO:0001583]
NM_014191.4:c.647T>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000298185	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000298185

GeneReviews

no classification provided

not provided

germline

literature only

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	germline	yes	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

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

Details of each submission

From GeneReviews, SCV000298185.2

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

#	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

Last Updated: Nov 3, 2024

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