NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala) AND Complex neurodevelopmental disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 2, 2016
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV001265329.3

Allele description [Variation Report for NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)]

NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)

Gene:

SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)

HGVS:

NC_000002.12:g.165374935T>C
NG_008143.1:g.140534T>C
NM_001040142.2:c.4223T>CMANE SELECT
NM_001040143.2:c.4223T>C
NM_001371246.1:c.4223T>C
NM_001371247.1:c.4223T>C
NM_021007.3:c.4223T>C
NP_001035232.1:p.Val1408Ala
NP_001035233.1:p.Val1408Ala
NP_001358175.1:p.Val1408Ala
NP_001358176.1:p.Val1408Ala
NP_066287.2:p.Val1408Ala
NP_066287.2:p.Val1408Ala
NC_000002.11:g.166231445T>C
NM_001040142.1:c.4223T>C
NM_021007.2:c.4223T>C

Protein change:

V1408A

Links:

dbSNP: rs1574716488

NCBI 1000 Genomes Browser:

rs1574716488

Molecular consequence:

NM_001040142.2:c.4223T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001040143.2:c.4223T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371246.1:c.4223T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001371247.1:c.4223T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_021007.3:c.4223T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Complex neurodevelopmental disorder
Identifiers:: MONDO: MONDO:0100038; MedGen: C5568766

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
SCV001443446	GenomeConnect - Simons Searchlight	no assertion criteria provided	Likely pathogenic (Aug 2, 2016)	de novo	provider interpretation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001443446

GenomeConnect - Simons Searchlight

no assertion criteria provided

Likely pathogenic
(Aug 2, 2016)

de novo

provider interpretation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	provider interpretation

Details of each submission

From GenomeConnect - Simons Searchlight, SCV001443446.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	provider interpretation	not provided

Description

Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2016-08-02 and interpreted as Likely Pathogenic. Variant was initially reported on 2014-03-04 by GTR ID of laboratory name Oslo University . The reporting laboratory might also submit to ClinVar.

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

Last Updated: Apr 13, 2025

ClinVar

Relating variation to medicine