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NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Oct 29, 2018
Accession:
VCV000068530.2
Variation ID:
68530
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)

Allele ID
79422
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166013829 (GRCh38) GRCh38 UCSC
2: 166870339 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_8:g.64811T>C
LRG_8t1:c.3587T>C
NC_000002.11:g.166870339A>G
... more HGVS
Protein change
L1196P, L1207P, L393P, L1178P, L1179P, L1195P
Other names
-
Canonical SPDI
NC_000002.12:166013828:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA284925
UniProtKB/Swiss-Prot: VAR_043360
dbSNP: rs121917963
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 Oct 29, 2018 RCV000818870.1
not provided 1 no assertion provided - RCV000059403.1
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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
1348 2705
LOC102724058 - - - GRCh38 - 1321

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 29, 2018)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV000959506.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces leucine with proline at codon 1207 of the SCN1A protein (p.Leu1207Pro). The leucine residue is highly conserved and there is a … (more)
not provided
(-)
no assertion provided
Method: not provided
Severe myoclonic epilepsy in infancy
Allele origin: unknown
UniProtKB/Swiss-Prot
Accession: SCV000090927.1
Submitted: (Apr 28, 2011)
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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Title Author Journal Year Link
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified. Zucca C Archives of neurology 2008 PMID: 18413471

Text-mined citations for rs121917963...

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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 Nov 27, 2021