NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter) AND Severe myoclonic epilepsy in infancy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 4, 2018
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:: RCV001250741.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)]

NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)

HGVS:

NC_000002.12:g.166052940G>T
NG_011906.1:g.25700C>A
NM_001165963.4:c.606C>AMANE SELECT
NM_001165964.3:c.606C>A
NM_001202435.3:c.606C>A
NM_001353948.2:c.606C>A
NM_001353949.2:c.606C>A
NM_001353950.2:c.606C>A
NM_001353951.2:c.606C>A
NM_001353952.2:c.606C>A
NM_001353954.2:c.606C>A
NM_001353955.2:c.606C>A
NM_001353957.2:c.606C>A
NM_001353958.2:c.606C>A
NM_001353960.2:c.606C>A
NM_001353961.2:c.-1820C>A
NM_006920.6:c.606C>A
NP_001159435.1:p.Tyr202Ter
NP_001159436.1:p.Tyr202Ter
NP_001189364.1:p.Tyr202Ter
NP_001340877.1:p.Tyr202Ter
NP_001340878.1:p.Tyr202Ter
NP_001340879.1:p.Tyr202Ter
NP_001340880.1:p.Tyr202Ter
NP_001340881.1:p.Tyr202Ter
NP_001340883.1:p.Tyr202Ter
NP_001340884.1:p.Tyr202Ter
NP_001340886.1:p.Tyr202Ter
NP_001340887.1:p.Tyr202Ter
NP_001340889.1:p.Tyr202Ter
NP_008851.3:p.Tyr202Ter
LRG_8:g.25700C>A
NC_000002.11:g.166909450G>T
NM_001165963.1:c.606C>A
NR_148667.2:n.992C>A

Protein change:

Y202*

Links:

dbSNP: rs374555589

NCBI 1000 Genomes Browser:

rs374555589

Molecular consequence:

NM_001353961.2:c.-1820C>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_148667.2:n.992C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_001165963.4:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001165964.3:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001202435.3:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353948.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353949.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353950.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353951.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353952.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353954.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353955.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353957.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353958.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001353960.2:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]
NM_006920.6:c.606C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:: Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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
SCV001426158	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Likely pathogenic (Apr 4, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001426158

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Likely pathogenic
(Apr 4, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV001426158.1

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

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

Last Updated: Aug 5, 2023

ClinVar

Relating variation to medicine