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NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp) AND Inborn genetic diseases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000623014.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)]

NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)
HGVS:
  • NC_000012.12:g.51806351C>A
  • NG_021180.3:g.221394C>A
  • NM_001177984.3:c.4742C>A
  • NM_001330260.2:c.4865C>AMANE SELECT
  • NM_001369788.1:c.4742C>A
  • NM_014191.3:c.4865C>A
  • NM_014191.4:c.4865C>A
  • NP_001171455.1:p.Ala1581Asp
  • NP_001317189.1:p.Ala1622Asp
  • NP_001356717.1:p.Ala1581Asp
  • NP_055006.1:p.Ala1622Asp
  • LRG_1389t1:c.4865C>A
  • LRG_1389t2:c.4865C>A
  • LRG_1389:g.221394C>A
  • LRG_1389p1:p.Ala1622Asp
  • LRG_1389p2:p.Ala1622Asp
  • NC_000012.11:g.52200135C>A
  • NM_014191.2:c.4865C>A
Protein change:
A1581D
Links:
dbSNP: rs1555230924
NCBI 1000 Genomes Browser:
rs1555230924
Molecular consequence:
  • NM_001177984.3:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.4865C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.4742C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.4865C>A - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
  • Acceleration of recovery from fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0053]
  • Increase in persistent current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0040]
  • Increase in slope of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0073]
  • Moderate depolarizing shift of voltage dependence of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0025]
  • Normal peak current [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0096]
  • Normal slope of activation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0036]
  • Overall mixed or unclear functional effect not able to be clearly categorized as Gain- or Loss-of-Function [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0145]
  • Severe depolarizing shift of voltage dependence of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0064]
  • Severe slowing of fast inactivation [Functional Epilepsy Nomenclature for Ion Channels: FENICS-0051]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000740860Ambry Genetics
criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))
Pathogenic
(Apr 17, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
African American/Caucasiangermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000740860.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1African American/Caucasian1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024