NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jul 1, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000189082.4

Allele description [Variation Report for NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)]

NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)

Genes:
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
LOC102724058:uncharacterized LOC102724058 [Gene]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
Other names:
p.R1213*:CGA>TGA
HGVS:
  • NC_000002.12:g.166013812G>A
  • NG_011906.1:g.64828C>T
  • NM_001165963.4:c.3637C>TMANE SELECT
  • NM_001165963.4:c.3637C>T
  • NM_001165964.3:c.3553C>T
  • NM_001202435.3:c.3637C>T
  • NM_001353948.2:c.3637C>T
  • NM_001353949.2:c.3604C>T
  • NM_001353950.2:c.3604C>T
  • NM_001353951.2:c.3604C>T
  • NM_001353952.2:c.3604C>T
  • NM_001353954.2:c.3601C>T
  • NM_001353955.2:c.3601C>T
  • NM_001353957.2:c.3553C>T
  • NM_001353958.2:c.3553C>T
  • NM_001353960.2:c.3550C>T
  • NM_001353961.2:c.1195C>T
  • NM_006920.6:c.3604C>T
  • NP_001159435.1:p.Arg1213Ter
  • NP_001159436.1:p.Arg1185Ter
  • NP_001189364.1:p.Arg1213Ter
  • NP_001340877.1:p.Arg1213Ter
  • NP_001340878.1:p.Arg1202Ter
  • NP_001340879.1:p.Arg1202Ter
  • NP_001340880.1:p.Arg1202Ter
  • NP_001340881.1:p.Arg1202Ter
  • NP_001340883.1:p.Arg1201Ter
  • NP_001340884.1:p.Arg1201Ter
  • NP_001340886.1:p.Arg1185Ter
  • NP_001340887.1:p.Arg1185Ter
  • NP_001340889.1:p.Arg1184Ter
  • NP_001340890.1:p.Arg399Ter
  • NP_008851.3:p.Arg1202Ter
  • LRG_8t1:c.3604C>T
  • LRG_8:g.64828C>T
  • NC_000002.11:g.166870322G>A
  • NM_001165963.1:c.3637C>T
  • NM_006920.4:c.3604C>T
  • NR_148667.2:n.3990C>T
  • p.(Arg1213*)
  • AB093548.1:c.3637C>T;p.Arg1213*
Protein change:
R1184*
Links:
dbSNP: rs794726710
NCBI 1000 Genomes Browser:
rs794726710
Molecular consequence:
  • NR_148667.2:n.3990C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001165963.4:c.3637C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001165964.3:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001202435.3:c.3637C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353948.2:c.3637C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353949.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353950.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353951.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353952.2:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353954.2:c.3601C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353955.2:c.3601C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353957.2:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353958.2:c.3553C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353960.2:c.3550C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001353961.2:c.1195C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006920.6:c.3604C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242713GeneDxcriteria provided, single submitter
Pathogenic
(Nov 9, 2016)
germlineclinical testing

Citation Link,

SCV001247846CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Pathogenic
(Jul 1, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242713.11

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

p.Arg1213Ter (CGA>TGA): c.3637 C>T in exon 18 of the SCN1A gene (NM_001165963.1) The R1213X nonsense mutation in the SCN1A gene has been reported previously in a monozygotic twins with severe myoclonic epilepsy of infancy (Fujiwara et al., 2003) and in a patient with intractable epilepsy (Wang et al., 2012). This mutation is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Therefore, the presence of the R1213X mutation is consistent with a diagnosis of a SCN1A-related disorder. The variant is found in EPILEPSY panel(s).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001247846.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 8, 2021

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