NM_001165963.4(SCN1A):c.603-1G>A AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 16, 2013
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:: RCV000188838.3

Allele description [Variation Report for NM_001165963.4(SCN1A):c.603-1G>A]

NM_001165963.4(SCN1A):c.603-1G>A

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.603-1G>A

HGVS:

NC_000002.12:g.166052944C>T
NG_011906.1:g.25696G>A
NM_001165963.4:c.603-1G>AMANE SELECT
NM_001165964.3:c.603-1G>A
NM_001202435.3:c.603-1G>A
NM_001353948.2:c.603-1G>A
NM_001353949.2:c.603-1G>A
NM_001353950.2:c.603-1G>A
NM_001353951.2:c.603-1G>A
NM_001353952.2:c.603-1G>A
NM_001353954.2:c.603-1G>A
NM_001353955.2:c.603-1G>A
NM_001353957.2:c.603-1G>A
NM_001353958.2:c.603-1G>A
NM_001353960.2:c.603-1G>A
NM_001353961.2:c.-1823-1G>A
NM_006920.6:c.603-1G>A
LRG_8:g.25696G>A
NC_000002.11:g.166909454C>T
NM_001165963.1:c.603-1G>A

Links:

dbSNP: rs796052959

NCBI 1000 Genomes Browser:

rs796052959

Molecular consequence:

NM_001165963.4:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001165964.3:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001202435.3:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353948.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353949.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353950.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353951.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353952.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353954.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353955.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353957.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353958.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353960.2:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001353961.2:c.-1823-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_006920.6:c.603-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000242468	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Pathogenic (Dec 16, 2013)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000242468

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Pathogenic
(Dec 16, 2013)

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 GeneDx, SCV000242468.11

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

Description

c.603-1 G>A: IVS4-1 G>A in intron 4 of the SCN1A gene (NM_001165963.1) The c.603-1 G>A mutation in the SCN1A gene destroys the canonical splice acceptor site in intron 4 and is expected to cause abnormal gene splicing. Although this specific mutation has not been previously reported to our knowledge, another nearby splice site mutation in the SCN1A gene has been previously reported in association with Dravet syndrome (Catarino et al., 2011). The variant is found in EPILEPSY panel(s).

#	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: Sep 29, 2024

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