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NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 27, 2020)
Last evaluated:
Jun 3, 2019
Accession:
VCV000929416.2
Variation ID:
929416
Description:
single nucleotide variant
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NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)

Allele ID
917732
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q24.3
Genomic location
2: 166047737 (GRCh38) GRCh38 UCSC
2: 166904247 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_8:g.30903G>C
NC_000002.11:g.166904247C>G
NC_000002.12:g.166047737C>G
... more HGVS
Protein change
A354P
Other names
-
Canonical SPDI
NC_000002.12:166047736:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jun 3, 2019 RCV001219108.1
Pathogenic 1 no assertion criteria provided Feb 19, 2020 RCV001194611.1
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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 2632

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 03, 2019)
criteria provided, single submitter
Method: clinical testing
Early infantile epileptic encephalopathy with suppression bursts
Allele origin: germline
Invitae
Accession: SCV001391029.1
Submitted: (Feb 06, 2020)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces alanine with proline at codon 354 of the SCN1A protein (p.Ala354Pro). The alanine residue is highly conserved and there is a … (more)
Pathogenic
(Feb 19, 2020)
no assertion criteria provided
Method: clinical testing
Severe myoclonic epilepsy in infancy
Allele origin: de novo
Laboratory of Medical Genetics, National & Kapodistrian University of Athens
Accession: SCV001364264.1
Submitted: (Mar 27, 2020)
Evidence details
Publications
PubMed (1)

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
UniProt: a hub for protein information. UniProt Consortium. Nucleic acids research 2015 PMID: 25348405
A catalog of SCN1A variants. Lossin C Brain & development 2009 PMID: 18804930

Record last updated Oct 08, 2021