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NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000471146.4
Variation ID:
471146
Description:
single nucleotide variant
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NM_001365536.1(SCN9A):c.553C>T (p.Arg185Cys)

Allele ID
449260
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166305835 (GRCh38) GRCh38 UCSC
2: 167162345 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_369:g.75153C>T
LRG_369t1:c.553C>T LRG_369p1:p.Arg185Cys
NC_000002.11:g.167162345G>A
... more HGVS
Protein change
R185C
Other names
-
Canonical SPDI
NC_000002.12:166305834:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
ClinGen: CA1944766
dbSNP: rs202083986
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 Sep 23, 2020 RCV000529129.5
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765530.1
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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 1427

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: SCV000896844.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Sep 23, 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: SCV000649365.5
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with cysteine at codon 185 of the SCN9A protein (p.Arg185Cys). The arginine residue is highly conserved and there is a … (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
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

Text-mined citations for rs202083986...

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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