NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 22, 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:: RCV003236943.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)]

NM_001165963.4(SCN1A):c.5881A>G (p.Ile1961Val)

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.5881A>G (p.Ile1961Val)

HGVS:

NC_000002.12:g.165991394T>C
NG_011906.1:g.87246A>G
NM_001165963.1:c.5881A>G
NM_001165963.4:c.5881A>GMANE SELECT
NM_001165964.3:c.5797A>G
NM_001202435.3:c.5881A>G
NM_001353948.2:c.5881A>G
NM_001353949.2:c.5848A>G
NM_001353950.2:c.5848A>G
NM_001353951.2:c.5848A>G
NM_001353952.2:c.5848A>G
NM_001353954.2:c.5845A>G
NM_001353955.2:c.5845A>G
NM_001353957.2:c.5797A>G
NM_001353958.2:c.5797A>G
NM_001353960.2:c.5794A>G
NM_001353961.2:c.3439A>G
NM_006920.6:c.5848A>G
NP_001159435.1:p.Ile1961Val
NP_001159436.1:p.Ile1933Val
NP_001189364.1:p.Ile1961Val
NP_001340877.1:p.Ile1961Val
NP_001340878.1:p.Ile1950Val
NP_001340879.1:p.Ile1950Val
NP_001340880.1:p.Ile1950Val
NP_001340881.1:p.Ile1950Val
NP_001340883.1:p.Ile1949Val
NP_001340884.1:p.Ile1949Val
NP_001340886.1:p.Ile1933Val
NP_001340887.1:p.Ile1933Val
NP_001340889.1:p.Ile1932Val
NP_001340890.1:p.Ile1147Val
NP_008851.3:p.Ile1950Val
NP_008851.3:p.Ile1950Val
LRG_8t1:c.5848A>G
LRG_8:g.87246A>G
LRG_8p1:p.Ile1950Val
NC_000002.11:g.166847904T>C
NM_006920.4:c.5848A>G
NR_148667.2:n.6298A>G

Protein change:

I1147V

Molecular consequence:

NM_001165963.4:c.5881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001165964.3:c.5797A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001202435.3:c.5881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353948.2:c.5881A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353949.2:c.5848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353950.2:c.5848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353951.2:c.5848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353952.2:c.5848A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353954.2:c.5845A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353955.2:c.5845A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353957.2:c.5797A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353958.2:c.5797A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353960.2:c.5794A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001353961.2:c.3439A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_006920.6:c.5848A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148667.2:n.6298A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003935807	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Dec 22, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003935807

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Dec 22, 2022)

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, SCV003935807.1

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

Description

This substitution is predicted to be within the C-terminal cytoplasmic domain.; Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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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