NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro) AND Severe myoclonic epilepsy in infancy

Clinical significance:Pathogenic (Last evaluated: Feb 19, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001194611.1

Allele description [Variation Report for NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)]

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

Gene:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.1060G>C (p.Ala354Pro)
HGVS:
  • NC_000002.12:g.166047737C>G
  • NG_011906.1:g.30903G>C
  • NM_001165963.4:c.1060G>CMANE SELECT
  • NM_001165964.3:c.1060G>C
  • NM_001202435.3:c.1060G>C
  • NM_001353948.2:c.1060G>C
  • NM_001353949.2:c.1060G>C
  • NM_001353950.2:c.1060G>C
  • NM_001353951.2:c.1060G>C
  • NM_001353952.2:c.1060G>C
  • NM_001353954.2:c.1060G>C
  • NM_001353955.2:c.1060G>C
  • NM_001353957.2:c.1060G>C
  • NM_001353958.2:c.1060G>C
  • NM_001353960.2:c.1060G>C
  • NM_001353961.2:c.-1366G>C
  • NM_006920.6:c.1060G>C
  • NP_001159435.1:p.Ala354Pro
  • NP_001159436.1:p.Ala354Pro
  • NP_001189364.1:p.Ala354Pro
  • NP_001340877.1:p.Ala354Pro
  • NP_001340878.1:p.Ala354Pro
  • NP_001340879.1:p.Ala354Pro
  • NP_001340880.1:p.Ala354Pro
  • NP_001340881.1:p.Ala354Pro
  • NP_001340883.1:p.Ala354Pro
  • NP_001340884.1:p.Ala354Pro
  • NP_001340886.1:p.Ala354Pro
  • NP_001340887.1:p.Ala354Pro
  • NP_001340889.1:p.Ala354Pro
  • NP_008851.3:p.Ala354Pro
  • LRG_8:g.30903G>C
  • NC_000002.11:g.166904247C>G
  • NM_001165963.1:c.1060G>C
  • NM_001165963.3:c.1060G>C
  • NR_148667.2:n.1446G>C
Protein change:
A354P
Molecular consequence:
  • NM_001353961.2:c.-1366G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001165963.4:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001165964.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001202435.3:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353948.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353949.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353950.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353951.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353952.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353954.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353955.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353957.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353958.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001353960.2:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006920.6:c.1060G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148667.2:n.1446G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Severe myoclonic epilepsy in infancy (DRVT)
Synonyms:
Epilepsy, Myoclonic, Infantile, Severe; Dravet syndrome; Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)
Identifiers:
MONDO: MONDO:0100135; MedGen: C0751122; Orphanet: 33069; OMIM: 607208

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001364264Laboratory of Medical Genetics, National & Kapodistrian University of Athensno assertion criteria providedPathogenic
(Feb 19, 2020)
de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV001364264.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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