NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 20, 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:: RCV002285455.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp)]

NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp)

Gene:

SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

Preferred name:

NM_001330260.2(SCN8A):c.5596C>T (p.Arg1866Trp)

HGVS:

NC_000012.12:g.51807082C>T
NG_021180.3:g.222125C>T
NM_001177984.3:c.5473C>T
NM_001330260.2:c.5596C>TMANE SELECT
NM_001369788.1:c.5473C>T
NM_014191.4:c.5596C>T
NP_001171455.1:p.Arg1825Trp
NP_001317189.1:p.Arg1866Trp
NP_001356717.1:p.Arg1825Trp
NP_055006.1:p.Arg1866Trp
LRG_1389t1:c.5596C>T
LRG_1389t2:c.5596C>T
LRG_1389:g.222125C>T
LRG_1389p1:p.Arg1866Trp
LRG_1389p2:p.Arg1866Trp
NC_000012.11:g.52200866C>T
NM_014191.3:c.5596C>T

Protein change:

R1825W

Links:

dbSNP: rs1938723469

NCBI 1000 Genomes Browser:

rs1938723469

Molecular consequence:

NM_001177984.3:c.5473C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001330260.2:c.5596C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001369788.1:c.5473C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_014191.4:c.5596C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002575461	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 20, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002575461

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 20, 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, SCV002575461.2

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

Description

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 has a deleterious effect on protein structure/function; This substitution is predicted to be within the C-terminal cytoplasmic domain; This variant is associated with the following publications: (PMID: 33004838)

#	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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