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NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 29, 2020
Accession:
VCV000894325.3
Variation ID:
894325
Description:
single nucleotide variant
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NM_001365536.1(SCN9A):c.980G>A (p.Gly327Glu)

Allele ID
881399
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166293358 (GRCh38) GRCh38 UCSC
2: 167149868 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.167149868C>T
NC_000002.12:g.166293358C>T
NG_012798.1:g.87630G>A
... more HGVS
Protein change
G327E
Other names
-
Canonical SPDI
NC_000002.12:166293357:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001134711.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001134712.1
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001134710.1
Uncertain significance 1 criteria provided, single submitter Jul 29, 2020 RCV001214418.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A-AS1 - - - GRCh38 - 1165
SCN9A - - GRCh38
GRCh37
235 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Primary erythromelalgia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001294465.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Indifference to pain, congenital, autosomal recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001294467.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Paroxysmal extreme pain disorder
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001294466.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jul 29, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary sensory and autonomic neuropathy type IIA
Generalized epilepsy with febrile seizures plus, type 7
Allele origin: germline
Invitae
Accession: SCV001386100.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with glutamic acid at codon 327 of the SCN9A protein (p.Gly327Glu). The glycine residue is highly conserved and there is … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters. Liu Z Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2019 PMID: 30834459
Variable epilepsy phenotypes associated with heterozygous mutation in the SCN9A gene: report of two cases. Yang C Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2018 PMID: 29500686

Record last updated Oct 08, 2021