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NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Sep 17, 2021)
Last evaluated:
Oct 13, 2020
Accession:
VCV000237689.7
Variation ID:
237689
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg)

Allele ID
243551
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55156310 (GRCh38) GRCh38 UCSC
19: 55667678 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432t1:c.173A>G
NC_000019.10:g.55156310T>C
NC_000019.9:g.55667678T>C
... more HGVS
Protein change
K58R
Other names
-
Canonical SPDI
NC_000019.10:55156309:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10583865
dbSNP: rs878853955
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 Oct 13, 2020 RCV000226371.4
Uncertain significance 1 criteria provided, single submitter Mar 22, 2019 RCV000253395.2
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001668391.2
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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
(Oct 13, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000284652.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 58 of the TNNI3 protein (p.Lys58Arg). The lysine residue is highly conserved and there is a … (more)
Uncertain significance
(Mar 22, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000318213.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.K58R variant (also known as c.173A>G), located in coding exon 5 of the TNNI3 gene, results from an A to G substitution at nucleotide … (more)
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001888281.1
Submitted: (Sep 17, 2021)
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
Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Kimura A Nature genetics 1997 PMID: 9241277

Text-mined citations for rs878853955...

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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 Oct 08, 2021