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NM_000363.5(TNNI3):c.184G>A (p.Glu62Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Nov 30, 2018
Accession:
VCV000454402.4
Variation ID:
454402
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.184G>A (p.Glu62Lys)

Allele ID
469293
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55156299 (GRCh38) GRCh38 UCSC
19: 55667667 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432t1:c.184G>A
LRG_432:g.6434G>A
NC_000019.10:g.55156299C>T
... more HGVS
Protein change
E62K
Other names
-
Canonical SPDI
NC_000019.10:55156298:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA407441938
dbSNP: rs1357844466
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 Nov 30, 2018 RCV000530156.2
Uncertain significance 1 no assertion criteria provided Dec 4, 2017 RCV000786225.2
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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
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000623776.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces glutamic acid with lysine at codon 62 of the TNNI3 protein (p.Glu62Lys). The glutamic acid residue is highly conserved and there … (more)
Uncertain significance
(Dec 04, 2017)
no assertion criteria provided
Method: provider interpretation
not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000924963.1
Submitted: (Aug 15, 2018)
Evidence details
Comment:
We identified in this variant in a patient with personal and family history of DCM. Testing was performed at Invitae. SCICD Classification: variant of uncertain … (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
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Jordan DM American journal of human genetics 2011 PMID: 21310275

Text-mined citations for rs1357844466...

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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