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NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr) AND Developmental and epileptic encephalopathy, 13

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 8, 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:
RCV001028097.1

Allele description [Variation Report for NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr)]

NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr)

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.3295G>A (p.Ala1099Thr)
HGVS:
  • NC_000012.12:g.51769258G>A
  • NG_021180.3:g.184301G>A
  • NM_001177984.3:c.3295G>A
  • NM_001330260.2:c.3295G>AMANE SELECT
  • NM_001369788.1:c.3295G>A
  • NM_014191.4:c.3295G>A
  • NP_001171455.1:p.Ala1099Thr
  • NP_001317189.1:p.Ala1099Thr
  • NP_001356717.1:p.Ala1099Thr
  • NP_055006.1:p.Ala1099Thr
  • LRG_1389t1:c.3295G>A
  • LRG_1389t2:c.3295G>A
  • LRG_1389:g.184301G>A
  • LRG_1389p1:p.Ala1099Thr
  • LRG_1389p2:p.Ala1099Thr
  • NC_000012.11:g.52163042G>A
  • NM_014191.3:c.3295G>A
Protein change:
A1099T
Links:
dbSNP: rs1592151654
NCBI 1000 Genomes Browser:
rs1592151654
Molecular consequence:
  • NM_001177984.3:c.3295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.3295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.3295G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.3295G>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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190881HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 8, 2019) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

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 HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI WGS, SCV001190881.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023