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NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Mar 3, 2020)
Last evaluated:
Dec 12, 2018
Accession:
VCV000043392.4
Variation ID:
43392
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)

Allele ID
52562
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154035 (GRCh38) GRCh38 UCSC
19: 55665403 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55154035C>T
NC_000019.9:g.55665403C>T
NM_000363.5:c.544G>A MANE Select NP_000354.4:p.Glu182Lys missense
... more HGVS
Protein change
E182K
Other names
p.E182K:GAG>AAG
Canonical SPDI
NC_000019.10:55154034:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021848
dbSNP: rs397516355
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, single submitter Sep 10, 2014 RCV000036303.3
Pathogenic 1 criteria provided, single submitter Oct 25, 2012 RCV000159235.1
Likely pathogenic 1 criteria provided, single submitter Dec 12, 2018 RCV001170613.1
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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
433 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 25, 2012)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209181.9
Submitted: (Jul 13, 2017)
Evidence details
Comment:
The Glu182Lys mutation in the TNNI3 gene has been reported in association with cardiomyopathy (Lakdawala N et al., 2012). Lakdawla et al. reported Glu182Lys occurred … (more)
Pathogenic
(Sep 10, 2014)
criteria provided, single submitter
Method: clinical testing
Primary dilated cardiomyopathy
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059955.6
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The Glu182Lys variant in TNNI3 has been identified by our laboratory as de novo in 1 African American neonate with DCM and 1 Caucasian infant … (more)
Likely pathogenic
(Dec 12, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333202.1
Submitted: (Mar 03, 2020)
Evidence details
Likely pathogenic
(Oct 12, 2015)
no assertion criteria provided
Method: clinical testing
Dilated cardiomyopathy
Allele origin: germline
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital
Accession: SCV000804930.1
Submitted: (Jul 17, 2018)
Evidence details

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
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Walsh R Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 27532257
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Pugh TJ Genetics in medicine : official journal of the American College of Medical Genetics 2014 PMID: 24503780
Genetic testing for dilated cardiomyopathy in clinical practice. Lakdawala NK Journal of cardiac failure 2012 PMID: 22464770

Text-mined citations for rs397516355...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 27, 2021