NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) AND Dilated cardiomyopathy 1DD

Clinical significance:Pathogenic

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:
RCV000119344.2

Allele description [Variation Report for NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)]

NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
Other names:
R144W(missense/non-synonymousmutation)
HGVS:
  • NC_000001.11:g.201364327G>A
  • NG_007556.1:g.18351C>T
  • NM_000364.4:c.460C>T
  • NM_001001430.3:c.430C>T
  • NM_001001431.3:c.430C>T
  • NM_001001432.3:c.415C>T
  • NM_001276345.2:c.460C>TMANE SELECT
  • NM_001276346.2:c.340C>T
  • NM_001276347.2:c.430C>T
  • NP_000355.2:p.Arg154Trp
  • NP_001001430.1:p.Arg144Trp
  • NP_001001431.1:p.Arg144Trp
  • NP_001001432.1:p.Arg139Trp
  • NP_001263274.1:p.Arg154Trp
  • NP_001263275.1:p.Arg114Trp
  • NP_001263276.1:p.Arg144Trp
  • LRG_431t1:c.460C>T
  • LRG_431:g.18351C>T
  • LRG_431p1:p.Arg154Trp
  • NC_000001.10:g.201333455G>A
  • NM_001001430.1:c.430C>T
  • NM_001001430.2:c.430C>T
Protein change:
R114W
Links:
dbSNP: rs483352832
NCBI 1000 Genomes Browser:
rs483352832
Molecular consequence:
  • NM_000364.4:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.415C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.460C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.340C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.430C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1DD (CMD1DD)
Identifiers:
MONDO: MONDO:0013168; MedGen: C2750995; Orphanet: 154; OMIM: 613172

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000154241Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biologyno assertion criteria providedpathogenicgermlinenot provided

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

Description

Present study of all the exons and exon-intron boundaries of cTnT in 147 DCM and 207 healthy controls, had revealed a total of 15 SNPs and a 5bp INDEL. of which, the polymorphic SNPs were compared with the HapMap population data. Interestingly a novel R144W mutation, that substitutes polar-neutral tryptophan for a highly conserved basic arginine in cTnT, altering the charge drastically, was identified in a DCM, with a family history of sudden-cardiac death (SCD). Family studies had revealed that the R144W is co-segregating with disease in a family as an autosomal dominant trait, but was completely absent in 207 healthy controls and 162 previously studied HCM patients.

SCV000154241

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot provided1not providednot provided

Citations

PubMed

A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

Rani DS, Dhandapany PS, Nallari P, Narasimhan C, Thangaraj K.

PLoS One. 2014;9(7):e101451. doi: 10.1371/journal.pone.0101451.

PubMed [citation]
PMID:
24992688
PMCID:
PMC4081629

Details of each submission

From Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology, SCV000154241.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jul 13, 2021

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