NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) AND Cardiac conduction defect, nonspecific

Clinical significance:Pathogenic (Last evaluated: Oct 1, 2003)

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:
RCV000009997.2

Allele description [Variation Report for NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)]

NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)

Gene:
SCN5A:sodium voltage-gated channel alpha subunit 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)
Other names:
p.G1408R:GGG>AGG
HGVS:
  • NC_000003.12:g.38560170C>T
  • NG_008934.1:g.94503G>A
  • NM_000335.4:c.4219G>A
  • NM_001099404.1:c.4222G>A
  • NM_198056.2:c.4222G>A
  • NP_000326.2:p.Gly1407Arg
  • NP_001092874.1:p.Gly1408Arg
  • NP_932173.1:p.Gly1408Arg
  • LRG_289t1:c.4222G>A
  • LRG_289t2:c.4219G>A
  • LRG_289t3:c.4222G>A
  • LRG_289:g.94503G>A
  • LRG_289p1:p.Gly1408Arg
  • LRG_289p2:p.Gly1407Arg
  • LRG_289p3:p.Gly1408Arg
  • NC_000003.11:g.38601661C>T
  • Q14524:p.Gly1408Arg
Protein change:
G1407R; GLY1408ARG
Links:
UniProtKB: Q14524#VAR_017681; OMIM: 600163.0026; dbSNP: 137854612
NCBI 1000 Genomes Browser:
rs137854612
Molecular consequence:
  • NM_000335.4:c.4219G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiac conduction defect, nonspecific
Synonyms:
Cardiac conduction disease
Identifiers:
EFO: EFO_0005137; MedGen: C2748542

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030218OMIMno assertion criteria providedPathogenic
(Oct 1, 2003)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

Benson DW, Wang DW, Dyment M, Knilans TK, Fish FA, Strieper MJ, Rhodes TH, George AL Jr.

J Clin Invest. 2003 Oct;112(7):1019-28.

PubMed [citation]
PMID:
14523039
PMCID:
PMC198523

Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.

Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, Moisan JP, Boisseau P, Schott JJ, Escande D, Le Marec H.

Circulation. 2001 Dec 18;104(25):3081-6.

PubMed [citation]
PMID:
11748104

Details of each submission

From OMIM, SCV000030218.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 3 sibs with congenital sick sinus syndrome (SSS1; 608567) with compound heterozygosity for mutation in the SCN5A gene, Benson et al. (2003) found on the paternal allele a 4222G-A transition, resulting in a gly1408-to-arg substitution (G1408R). The maternal allele carried a pro1298-to-leu substitution (600163.0025).

Kyndt et al. (2001) reported the G1408R mutation, which they designated GLY1406ARG, in heterozygous state in a large French family segregating both isolated cardiac conduction defect (see 601144) and Brugada syndrome (BRGDA1; 601144).

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

Last Updated: Jun 14, 2017