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NM_000363.5(TNNI3):c.434G>T (p.Arg145Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 18, 2020
Accession:
VCV001035985.1
Variation ID:
1035985
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.434G>T (p.Arg145Leu)

Allele ID
1034506
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154145 (GRCh38) GRCh38 UCSC
19: 55665513 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55154145C>A
NC_000019.9:g.55665513C>A
NG_007866.2:g.8588G>T
... more HGVS
Protein change
R145L
Other names
-
Canonical SPDI
NC_000019.10:55154144:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Mar 18, 2020 RCV001338929.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNI3 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
438 493

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Mar 18, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001532634.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (5)
Comment:
This sequence change replaces arginine with leucine at codon 145 of the TNNI3 protein (p.Arg145Leu). The arginine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy. Wang J European journal of heart failure 2014 PMID: 25132132
Genetics of hypertrophic cardiomyopathy in Norway. Berge KE Clinical genetics 2014 PMID: 24111713
Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy. Zou Y Molecular biology reports 2013 PMID: 23283745
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. Mogensen J Journal of the American College of Cardiology 2004 PMID: 15607392
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Kimura A Nature genetics 1997 PMID: 9241277

Record last updated Oct 08, 2021