NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 2019
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:: RCV002411460.2

Allele description [Variation Report for NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln)]

NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln)

Genes:

SCN1A-AS1:SCN1A and SCN9A antisense RNA 1 [Gene - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q24.3

Genomic location:

Preferred name:

NM_001365536.1(SCN9A):c.1790G>A (p.Arg597Gln)

Other names:

p.Arg597Gln

HGVS:

NC_000002.12:g.166284637C>T
NG_012798.1:g.96351G>A
NM_001365536.1:c.1790G>AMANE SELECT
NM_002977.4:c.1790G>A
NP_001352465.1:p.Arg597Gln
NP_002968.1:p.Arg597Gln
NP_002968.1:p.Arg597Gln
NP_002968.2:p.Arg597Gln
LRG_369t1:c.1790G>A
LRG_369:g.96351G>A
LRG_369p1:p.Arg597Gln
NC_000002.11:g.167141147C>T
NM_002977.2:c.1790G>A
NM_002977.3:c.1790G>A

Protein change:

R597Q

Links:

dbSNP: rs200821646

NCBI 1000 Genomes Browser:

rs200821646

Molecular consequence:

NM_001365536.1:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_002977.4:c.1790G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002716212	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 28, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002716212

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 28, 2019)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002716212.2

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

Description

The p.R597Q variant (also known as c.1790G>A), located in coding exon 11 of the SCN9A gene, results from a G to A substitution at nucleotide position 1790. The arginine at codon 597 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Nov 30, 2024

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