NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) AND Death in infancy

Clinical significance:Pathogenic (Last evaluated: Mar 27, 2015)

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:
RCV000234973.1

Allele description

NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu)

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_000335.4(SCN5A):c.1844G>A (p.Gly615Glu)
Other names:
p.G615E:GGA>GAA
HGVS:
  • NC_000003.12:g.38603758C>T
  • NG_008934.1:g.50915G>A
  • NM_000335.4:c.1844G>A
  • NM_001099404.1:c.1844G>A
  • NM_198056.2:c.1844G>A
  • NP_000326.2:p.Gly615Glu
  • NP_001092874.1:p.Gly615Glu
  • NP_932173.1:p.Gly615Glu
  • LRG_289t1:c.1844G>A
  • LRG_289t2:c.1844G>A
  • LRG_289t3:c.1844G>A
  • LRG_289:g.50915G>A
  • LRG_289p1:p.Gly615Glu
  • LRG_289p2:p.Gly615Glu
  • LRG_289p3:p.Gly615Glu
  • NC_000003.11:g.38645249C>T
  • Q14524:p.Gly615Glu
Protein change:
G615E
Links:
UniProtKB: Q14524#VAR_026358; dbSNP: rs12720452
NCBI 1000 Genomes Browser:
rs12720452
Allele Frequency:
0.00023(T), GO-ESP
Molecular consequence:
  • NM_000335.4:c.1844G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Death in infancy
Synonyms:
Death in early childhood; Infantile death; Lethal in infancy
Identifiers:
MedGen: C1844947; Human Phenotype Ontology: HP:0001522

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000263112Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences - HCIFS-Postmortem genetic screening projectno assertion criteria providedPathogenic
(Mar 27, 2015)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Causasiansunknownyes1not providednot provided1not providedclinical testing

Citations

PubMed

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

Yang P, Kanki H, Drolet B, Yang T, Wei J, Viswanathan PC, Hohnloser SH, Shimizu W, Schwartz PJ, Stanton M, Murray KT, Norris K, George AL Jr, Roden DM.

Circulation. 2002 Apr 23;105(16):1943-8.

PubMed [citation]
PMID:
11997281

High prevalence of genetic variants previously associated with LQT syndrome in new exome data.

Refsgaard L, Holst AG, Sadjadieh G, Haunsø S, Nielsen JB, Olesen MS.

Eur J Hum Genet. 2012 Aug;20(8):905-8. doi: 10.1038/ejhg.2012.23. Epub 2012 Feb 29.

PubMed [citation]
PMID:
22378279
PMCID:
PMC3400735
See all PubMed Citations (6)

Details of each submission

From Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences - HCIFS-Postmortem genetic screening project, SCV000263112.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Causasians1not providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1Blooddiscovery1not providednot providednot provided

Last Updated: Sep 27, 2017