Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 10, 2018
Accession:
VCV000068650.3
Variation ID:
68650
Description:
single nucleotide variant
Help

NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys)

Allele ID
79542
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 165992194 (GRCh38) GRCh38 UCSC
2: 166848704 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_8:g.86446A>G
NC_000002.11:g.166848704T>C
NC_000002.12:g.165992194T>C
... more HGVS
Protein change
Y1683C, Y1694C, Y1665C, Y880C, Y1666C, Y1682C
Other names
-
Canonical SPDI
NC_000002.12:165992193:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA285210
UniProtKB/Swiss-Prot: VAR_029713
dbSNP: rs121918777
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 10, 2018 RCV000465483.2
Uncertain significance 1 criteria provided, single submitter Mar 29, 2016 RCV000501085.2
not provided 1 no assertion provided - RCV000059530.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1348 2705
LOC102724058 - - - GRCh38 - 1321

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000596949.1
Submitted: (Jul 05, 2017)
Evidence details
Uncertain significance
(Oct 10, 2018)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV000548781.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces tyrosine with cysteine at codon 1694 of the SCN1A protein (p.Tyr1694Cys). The tyrosine residue is highly conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: not provided
Severe myoclonic epilepsy in infancy
Allele origin: not provided
UniProtKB/Swiss-Prot
Accession: SCV000091061.1
Submitted: (Apr 28, 2011)
Comment:
Variants reported as p.Tyr1684Cys in PubMed 14738421
Evidence details

Functional evidence

Help
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

Help
Title Author Journal Year Link
Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB). Fukuma G Epilepsia 2004 PMID: 14738421

Text-mined citations for rs121918777...

Help
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 Nov 27, 2021