NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 23, 2022
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:: RCV002850939.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met)]

NM_001165963.4(SCN1A):c.3090A>G (p.Ile1030Met)

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.3090A>G (p.Ile1030Met)

HGVS:

NC_000002.12:g.166036387T>C
NG_011906.1:g.42253A>G
NM_001165963.4:c.3090A>GMANE SELECT
NM_001165964.3:c.3006A>G
NM_001202435.3:c.3090A>G
NM_001353948.2:c.3090A>G
NM_001353949.2:c.3057A>G
NM_001353950.2:c.3057A>G
NM_001353951.2:c.3057A>G
NM_001353952.2:c.3057A>G
NM_001353954.2:c.3054A>G
NM_001353955.2:c.3054A>G
NM_001353957.2:c.3006A>G
NM_001353958.2:c.3006A>G
NM_001353960.2:c.3003A>G
NM_001353961.2:c.648A>G
NM_006920.6:c.3057A>G
NP_001159435.1:p.Ile1030Met
NP_001159436.1:p.Ile1002Met
NP_001189364.1:p.Ile1030Met
NP_001340877.1:p.Ile1030Met
NP_001340878.1:p.Ile1019Met
NP_001340879.1:p.Ile1019Met
NP_001340880.1:p.Ile1019Met
NP_001340881.1:p.Ile1019Met
NP_001340883.1:p.Ile1018Met
NP_001340884.1:p.Ile1018Met
NP_001340886.1:p.Ile1002Met
NP_001340887.1:p.Ile1002Met
NP_001340889.1:p.Ile1001Met
NP_001340890.1:p.Ile216Met
NP_008851.3:p.Ile1019Met
NP_008851.3:p.Ile1019Met
LRG_8t1:c.3057A>G
LRG_8:g.42253A>G
LRG_8p1:p.Ile1019Met
NC_000002.11:g.166892897T>C
NM_006920.4:c.3057A>G
NR_110598.1:n.727T>C
NR_148667.2:n.3443A>G

Protein change:

I1001M

Molecular consequence:

NM_001165963.4:c.3090A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.3006A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.3090A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.3090A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.3057A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.3057A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.3057A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.3057A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.3054A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.3054A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.3006A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.3006A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.3003A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.648A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.3057A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_110598.1:n.727T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148667.2:n.3443A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003215342	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 23, 2022)	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

SCV003215342

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 23, 2022)

germline

clinical testing

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	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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003215342.2

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN1A protein function. This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1030 of the SCN1A protein (p.Ile1030Met).

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine