NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp) AND Primary dilated cardiomyopathy

Clinical significance:Pathogenic (Last evaluated: Aug 4, 2014)

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:
RCV000157537.1

Allele description

NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001001430.2(TNNT2):c.421C>T (p.Arg141Trp)
Other names:
p.R141W:CGG>TGG
HGVS:
  • NC_000001.11:g.201364336G>A
  • NG_007556.1:g.18342C>T
  • NM_000364.3:c.451C>T
  • NM_001001430.2:c.421C>T
  • NP_000355.2:p.Arg151Trp
  • NP_001001430.1:p.Arg141Trp
  • NC_000001.10:g.201333464G>A
  • NM_000364.2:c.451C>T
  • NM_001001430.1:c.421C>T
  • P45379:p.Arg151Trp
Protein change:
R141W; ARG141TRP
Links:
UniProtKB: P45379#VAR_016198; OMIM: 191045.0007; dbSNP: rs74315379
GMAF:
0.0006(T), 74315379
NCBI 1000 Genomes Browser:
rs74315379
Molecular consequence:
  • NM_001001430.2:c.421C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Congestive cardiomyopathy
Identifiers:
EFO: EFO_0000407; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000207283Blueprint Geneticsno assertion criteria providedPathogenic
(Aug 4, 2014)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.

Li D, Czernuszewicz GZ, Gonzalez O, Tapscott T, Karibe A, Durand JB, Brugada R, Hill R, Gregoritch JM, Anderson JL, QuiƱones M, Bachinski LL, Roberts R.

Circulation. 2001 Oct 30;104(18):2188-93.

PubMed [citation]
PMID:
11684629

Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.

Lombardi R, Bell A, Senthil V, Sidhu J, Noseda M, Roberts R, Marian AJ.

Cardiovasc Res. 2008 Jul 1;79(1):109-17. doi: 10.1093/cvr/cvn078. Epub 2008 Mar 18.

PubMed [citation]
PMID:
18349139
PMCID:
PMC2773799

Details of each submission

From Blueprint Genetics, SCV000207283.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 2, 2018