NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) AND Congenital long QT syndrome

Clinical significance:not provided

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

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000058804.3

Allele description [Variation Report for NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)]

NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His)

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_000335.5(SCN5A):c.5735G>A (p.Arg1912His)
Other names:
p.R1913H:CGC>CAC
HGVS:
  • NC_000003.12:g.38550634C>T
  • NG_008934.1:g.104039G>A
  • NM_000335.5:c.5735G>AMANE SELECT
  • NM_001099404.2:c.5738G>A
  • NM_001099405.2:c.5684G>A
  • NM_001160160.2:c.5639G>A
  • NM_001160161.2:c.5576G>A
  • NM_001354701.2:c.5681G>A
  • NM_198056.2:c.5738G>A
  • NM_198056.3:c.5738G>A
  • NP_000326.2:p.Arg1912His
  • NP_001092874.1:p.Arg1913His
  • NP_001092875.1:p.Arg1895His
  • NP_001153632.1:p.Arg1880His
  • NP_001153633.1:p.Arg1859His
  • NP_001341630.1:p.Arg1894His
  • NP_932173.1:p.Arg1913His
  • NP_932173.1:p.Arg1913His
  • LRG_289t1:c.5738G>A
  • LRG_289:g.104039G>A
  • LRG_289p1:p.Arg1913His
  • NC_000003.11:g.38592125C>T
  • Q14524:p.Arg1913His
Protein change:
R1859H
Links:
UniProtKB: Q14524#VAR_074762; dbSNP: rs199473327
NCBI 1000 Genomes Browser:
rs199473327
Molecular consequence:
  • NM_000335.5:c.5735G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.5738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.5684G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.5639G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.5576G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.5681G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.5738G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.5738G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital long QT syndrome (RWS)
Synonyms:
Familial long QT syndrome; Romano-Ward syndrome; Ventricular fibrillation with prolonged QT interval
Identifiers:
MONDO: MONDO:0019171; MedGen: C1141890; Orphanet: 768; OMIM: PS192500

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000090324Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trustno assertion providednot providedgermlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Napolitano C, Priori SG, Schwartz PJ, Bloise R, Ronchetti E, Nastoli J, Bottelli G, Cerrone M, Leonardi S.

JAMA. 2005 Dec 21;294(23):2975-80.

PubMed [citation]
PMID:
16414944

Paralogous annotation of disease-causing variants in long QT syndrome genes.

Ware JS, Walsh R, Cunningham F, Birney E, Cook SA.

Hum Mutat. 2012 Aug;33(8):1188-1191. doi: 10.1002/humu.22114. Epub 2012 Jun 7.

PubMed [citation]
PMID:
22581653
PMCID:
PMC4640174

Details of each submission

From Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust, SCV000090324.3

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

Description

This variant has been reported as associated with Long QT syndrome in the following publications (PMID:16414944). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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

Last Updated: Oct 30, 2021

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