NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter) AND Early infantile epileptic encephalopathy with suppression bursts

Clinical significance:Pathogenic (Last evaluated: Aug 28, 2021)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000703313.5

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)]

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

Genes:

SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)

HGVS:

NC_000002.12:g.166013838C>T
NG_011906.1:g.64802G>A
NM_001165963.4:c.3611G>AMANE SELECT
NM_001165964.3:c.3527G>A
NM_001202435.3:c.3611G>A
NM_001353948.2:c.3611G>A
NM_001353949.2:c.3578G>A
NM_001353950.2:c.3578G>A
NM_001353951.2:c.3578G>A
NM_001353952.2:c.3578G>A
NM_001353954.2:c.3575G>A
NM_001353955.2:c.3575G>A
NM_001353957.2:c.3527G>A
NM_001353958.2:c.3527G>A
NM_001353960.2:c.3524G>A
NM_001353961.2:c.1169G>A
NM_006920.6:c.3578G>A
NP_001159435.1:p.Trp1204Ter
NP_001159436.1:p.Trp1176Ter
NP_001189364.1:p.Trp1204Ter
NP_001340877.1:p.Trp1204Ter
NP_001340878.1:p.Trp1193Ter
NP_001340879.1:p.Trp1193Ter
NP_001340880.1:p.Trp1193Ter
NP_001340881.1:p.Trp1193Ter
NP_001340883.1:p.Trp1192Ter
NP_001340884.1:p.Trp1192Ter
NP_001340886.1:p.Trp1176Ter
NP_001340887.1:p.Trp1176Ter
NP_001340889.1:p.Trp1175Ter
NP_001340890.1:p.Trp390Ter
NP_008851.3:p.Trp1193Ter
LRG_8:g.64802G>A
NC_000002.11:g.166870348C>T
NM_001165963.1:c.3611G>A
NR_148667.2:n.3964G>A

Protein change:

W1175*

Links:

dbSNP: rs1559149128

NCBI 1000 Genomes Browser:

rs1559149128

Molecular consequence:

NR_148667.2:n.3964G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001165963.4:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001165964.3:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001202435.3:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353948.2:c.3611G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353949.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353950.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353951.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353952.2:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353954.2:c.3575G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353955.2:c.3575G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353957.2:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353958.2:c.3527G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353960.2:c.3524G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353961.2:c.1169G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_006920.6:c.3578G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:: Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:: MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000832210	Invitae	criteria provided, single submitter Invitae Variant Classification Sherloc (09022015)	Pathogenic (Aug 28, 2021)	germline	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

SCV000832210

Invitae

criteria provided, single submitter

Invitae Variant Classification Sherloc (09022015)

Pathogenic
(Aug 28, 2021)

germline

clinical testing

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

Summary from all submissions

Help

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV000832210.2

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

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

Last Updated: Dec 17, 2022

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