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NM_001365536.1(SCN9A):c.4156A>C (p.Lys1386Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 4, 2021)
Last evaluated:
Dec 27, 2019
Accession:
VCV000808874.9
Variation ID:
808874
Description:
single nucleotide variant
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NM_001365536.1(SCN9A):c.4156A>C (p.Lys1386Gln)

Allele ID
794848
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166228741 (GRCh38) GRCh38 UCSC
2: 167085251 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.167085251T>G
NC_000002.12:g.166228741T>G
NG_012798.1:g.152247A>C
... more HGVS
Protein change
K1375Q, K1386Q
Other names
-
Canonical SPDI
NC_000002.12:166228740:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs199902747
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 May 1, 2016 RCV000997294.2
Uncertain significance 1 criteria provided, single submitter Dec 27, 2019 RCV001041147.2
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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
Uncertain significance
(May 01, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001152530.7
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Dec 27, 2019)
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: SCV001204747.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with glutamine at codon 1375 of the SCN9A protein (p.Lys1375Gln). The lysine 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs199902747...

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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