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NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 16, 2020
Accession:
VCV000006368.6
Variation ID:
6368
Description:
single nucleotide variant
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NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)

Allele ID
21407
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166311573 (GRCh38) GRCh38 UCSC
2: 167168083 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q15858:p.Ile62Val
NC_000002.11:g.167168083T>C
NC_000002.12:g.166311573T>C
... more HGVS
Protein change
I62V
Other names
-
Canonical SPDI
NC_000002.12:166311572:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Links
ClinGen: CA118170
UniProtKB: Q15858#VAR_064596
OMIM: 603415.0020
dbSNP: rs121908920
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 22, 2016 RCV000215091.1
Uncertain significance 1 criteria provided, single submitter Oct 16, 2020 RCV000555200.6
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765531.1
Uncertain significance 1 no assertion criteria provided Sep 1, 2009 RCV000006740.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN9A - - GRCh38
GRCh37
235 1426

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Primary erythromelalgia
Paroxysmal extreme pain disorder
Hereditary sensory and autonomic neuropathy type IIA
Indifference to pain, congenital, autosomal recessive
Severe myoclonic epilepsy in infancy
Generalized epilepsy with febrile seizures plus, type 7
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896845.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Mar 22, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000279165.9
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The I62V variant has been reported previously in a Hispanic patient with febrile seizures (Singh et al., 2009). The patient was a heterozygous carrier of … (more)
Uncertain significance
(Oct 16, 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: SCV000649284.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces isoleucine with valine at codon 62 of the SCN9A protein (p.Ile62Val). The isoleucine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 01, 2009)
no assertion criteria provided
Method: literature only
RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
Allele origin: germline
OMIM
Accession: SCV000026932.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
No association between SCN9A and monogenic human epilepsy disorders. Fasham J PLoS genetics 2020 PMID: 33216760
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. Singh NA PLoS genetics 2009 PMID: 19763161

Text-mined citations for rs121908920...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021