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NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 7, 2018)
Last evaluated:
Jan 1, 2018
Accession:
VCV000495243.1
Variation ID:
495243
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)

Allele ID
486737
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166037994 (GRCh38) GRCh38 UCSC
2: 166894504 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_8:g.40646C>T
NC_000002.11:g.166894504G>A
NC_000002.12:g.166037994G>A
... more HGVS
Protein change
Q899*, Q910*, Q898*, Q881*, Q882*, Q96*
Other names
-
Canonical SPDI
NC_000002.12:166037993:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA349061512
dbSNP: rs794726721
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jan 1, 2018 RCV000585857.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SCN1A Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
1309 2634

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 01, 2018)
criteria provided, single submitter
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: de novo
NeuroMeGen,Hospital Clinico Santiago de Compostela
Accession: SCV000693775.1
Submitted: (Mar 07, 2018)
Evidence details

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 rs794726721...

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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