NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His) AND Dilated cardiomyopathy 1E

Clinical significance:Pathogenic (Last evaluated: Mar 8, 2013)

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:
RCV000010009.1

Allele description [Variation Report for NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His)]

NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His)

Gene:
SCN5A:sodium channel, voltage gated, type V alpha subunit [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.2
Genomic location:
Preferred name:
NM_000335.4(SCN5A):c.4780G>C (p.Asp1594His)
HGVS:
  • NC_000003.12:g.38554309C>G
  • NG_008934.1:g.100364G>C
  • NM_000335.4:c.4780G>C
  • NM_001099404.1:c.4783G>C
  • NM_001160160.1:c.4714+66G>C
  • NM_198056.2:c.4783G>C
  • NP_000326.2:p.Asp1594His
  • NP_001092874.1:p.Asp1595His
  • NP_932173.1:p.Asp1595His
  • LRG_289t1:c.4783G>C
  • LRG_289t2:c.4780G>C
  • LRG_289t3:c.4783G>C
  • LRG_289:g.100364G>C
  • LRG_289p1:p.Asp1595His
  • LRG_289p2:p.Asp1594His
  • LRG_289p3:p.Asp1595His
  • NC_000003.11:g.38595800C>G
Protein change:
D1595H; ASP1595HIS
Links:
OMIM: 600163.0039; dbSNP: 137854607
NCBI 1000 Genomes Browser:
rs137854607
Molecular consequence:
  • NM_001160160.1:c.4714+66G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000335.4:c.4780G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1E (CMD1E)
Synonyms:
CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2; CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA; Cardiomyopathy, dilated, 1E
Identifiers:
MedGen: C1832680; Orphanet: 154; OMIM: 601154
Age of onset:
Variable
Prevalence:
1-5 / 10 000 154

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000030230OMIMno assertion criteria providedPathogenic
(Mar 8, 2013)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.

Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, Horton SC, Rodeheffer RJ, Anderson JL.

JAMA. 2005 Jan 26;293(4):447-54.

PubMed [citation]
PMID:
15671429
PMCID:
PMC2039897

Details of each submission

From OMIM, SCV000030230.1

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

Description

In a 7-year-old boy with early manifestations of dilated cardiomyopathy (601154) including sinus bradycardia, left ventricular dilation, and normal contractile function, Olson et al. (2005) identified heterozygosity for a 4783G-C transversion in exon 27 of the SCN5A gene, resulting in an asp1595-to-his (D1595H) substitution at a highly conserved residue in the transmembrane domain. The mutation was found in DNA from postmortem tissue of a brother who died at 34 years of age with an autopsy diagnosis of cardiomyopathy and only mild coronary artery disease. The mutation was also identified in 2 sibs and a paternal uncle, all of whom had sinus bradycardia, and a paternal aunt with borderline left atrial enlargement. His father, an obligate mutation carrier, had atrial fibrillation and died at 49 years of age from pulmonary embolism; his paternal grandfather, a presumed mutation carrier, developed congestive heart failure at 70 years of age.

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

Last Updated: Jun 29, 2015