current
TNNT2:c.829G>A (p.Asp277Asn) AND Left ventricular noncompaction 6
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In 2 affected members of a family with dilated cardiomyopathy (601494), Mogensen et al. (2004) identified heterozygosity for an asp270-to-asn (D270N) substitution at a conserved residue in exon 15 of the TNNT2 gene. The proband underwent cardiac transplantation at 38 years of age and died at age 44; his affected son was alive at 21 years of age. The mutation was not found in 2 unaffected children or in 200 ethnically matched control chromosomes. Functional studies showed significant impairment of mutated troponin interaction compared with wildtype control, indicating an altered regulation of myocardial contractility.
15542288
TNNT2:c.829G>A (p.Asp277Asn)
NM_001001430.2:c.808G>A
NM_000364.3:c.829G>A
NG_007556.1:g.23042G>A
NC_000001.10:g.201328764C>T
NM_001001430.1:c.808G>A
NM_000364.2:c.829G>A
NP_001001430.1:p.Asp270Asn
NP_000355.2:p.Asp277Asn
missense
missense
D270N
D277N
ASP270ASN
1q32.1
troponin T type 2 (cardiac)
TNNT2
Left ventricular noncompaction 6
Dilated cardiomyopathy 1D
Cardiomyopathy, dilated, 1d
CMD1D
LVNC6
Nonsyndromic isolated dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following: Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion). Arrhythmias and/or conduction system disease. Thromboembolic disease (from left ventricular mural thrombus) including stroke .
Variable
1-5 / 10 000
20301486
23788249
current
pathogenic
germline
human
not provided
curation
In 2 affected members of a family with dilated cardiomyopathy (601494), Mogensen et al. (2004) identified heterozygosity for an asp270-to-asn (D270N) substitution at a conserved residue in exon 15 of the TNNT2 gene. The proband underwent cardiac transplantation at 38 years of age and died at age 44; his affected son was alive at 21 years of age. The mutation was not found in 2 unaffected children or in 200 ethnically matched control chromosomes. Functional studies showed significant impairment of mutated troponin interaction compared with wildtype control, indicating an altered regulation of myocardial contractility.
15542288
TNNT2, ASP270ASN
ASP270ASN
TNNT2
CARDIOMYOPATHY, DILATED, 1D