NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) AND Long QT syndrome 3

Clinical significance:Pathogenic (Last evaluated: Jan 12, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000009963.7

Allele description [Variation Report for NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)]

NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His)

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.4928G>A (p.Arg1643His)
Other names:
p.R1644H:CGC>CAC
HGVS:
  • NC_000003.12:g.38551441C>T
  • NG_008934.1:g.103232G>A
  • NM_000335.5:c.4928G>AMANE SELECT
  • NM_001099404.2:c.4931G>A
  • NM_001099405.2:c.4877G>A
  • NM_001160160.2:c.4832G>A
  • NM_001160161.2:c.4769G>A
  • NM_001354701.2:c.4874G>A
  • NM_198056.2:c.4931G>A
  • NM_198056.3:c.4931G>A
  • NP_000326.2:p.Arg1643His
  • NP_001092874.1:p.Arg1644His
  • NP_001092875.1:p.Arg1626His
  • NP_001153632.1:p.Arg1611His
  • NP_001153633.1:p.Arg1590His
  • NP_001341630.1:p.Arg1625His
  • NP_932173.1:p.Arg1644His
  • NP_932173.1:p.Arg1644His
  • LRG_289t1:c.4931G>A
  • LRG_289:g.103232G>A
  • LRG_289p1:p.Arg1644His
  • NC_000003.11:g.38592932C>T
  • Q14524:p.Arg1644His
Protein change:
R1590H; ARG1644HIS
Links:
UniProtKB: Q14524#VAR_001579; OMIM: 600163.0002; dbSNP: rs28937316
NCBI 1000 Genomes Browser:
rs28937316
Molecular consequence:
  • NM_000335.5:c.4928G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099404.2:c.4931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001099405.2:c.4877G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160160.2:c.4832G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001160161.2:c.4769G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354701.2:c.4874G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.2:c.4931G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_198056.3:c.4931G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Long QT syndrome 3 (LQT3)
Identifiers:
MONDO: MONDO:0011377; MedGen: C1859062; Orphanet: 101016; Orphanet: 768; OMIM: 603830

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030184OMIMno assertion criteria providedPathogenic
(Mar 10, 1995)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000264213Blueprint Geneticscriteria provided, single submitter
Pathogenic
(May 13, 2015)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV000805136Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleaguescriteria provided, single submitter
Pathogenic
(Jan 12, 2018)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.

Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT.

Cell. 1995 Mar 10;80(5):805-11.

PubMed [citation]
PMID:
7889574

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT.

Hum Mol Genet. 1995 Sep;4(9):1603-7.

PubMed [citation]
PMID:
8541846
See all PubMed Citations (6)

Details of each submission

From OMIM, SCV000030184.3

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

Description

In a mother and son with the long QT syndrome (LQT3; 603830), Wang et al. (1995) demonstrated a CGC-to-CAC mutation in codon 1644, resulting in the substitution of a highly conserved arginine residue by histidine.

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

From Blueprint Genetics, SCV000264213.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues, SCV000805136.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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