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NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly) AND Developmental and epileptic encephalopathy, 13

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Oct 16, 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:
RCV001249745.4

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly)]

NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly)

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.5333A>G (p.Asp1778Gly)
HGVS:
  • NC_000012.12:g.51806819A>G
  • NG_021180.3:g.221862A>G
  • NM_001177984.3:c.5210A>G
  • NM_001330260.2:c.5333A>GMANE SELECT
  • NM_001369788.1:c.5210A>G
  • NM_014191.4:c.5333A>G
  • NP_001171455.1:p.Asp1737Gly
  • NP_001317189.1:p.Asp1778Gly
  • NP_001356717.1:p.Asp1737Gly
  • NP_055006.1:p.Asp1778Gly
  • LRG_1389t1:c.5333A>G
  • LRG_1389t2:c.5333A>G
  • LRG_1389:g.221862A>G
  • LRG_1389p1:p.Asp1778Gly
  • LRG_1389p2:p.Asp1778Gly
  • NC_000012.11:g.52200603A>G
  • NM_014191.3:c.5333A>G
Protein change:
D1737G
Links:
dbSNP: rs1938714598
NCBI 1000 Genomes Browser:
rs1938714598
Molecular consequence:
  • NM_001177984.3:c.5210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.5333A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.5210A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.5333A>G - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001423778Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)		Likely pathogenic
(Oct 16, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001423778.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The SCN8A c.5333A>G (p.Asp1778Gly) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, so the variant is presumed to be rare. The Asp1778 residue is located in the C-terminal cytoplasmic tail of the protein. Based on absence from public frequency databases, identification in a de novo state, and a low rate of benign missense variation in the SCN8A gene, the p.Asp1778Gly variant is classified as likely pathogenic for SCN8A-related epilepsy with encephalopathy.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023