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NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 10, 2020
Accession:
VCV000165521.6
Variation ID:
165521
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)

Allele ID
176340
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154809 (GRCh38) GRCh38 UCSC
19: 55666177 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55154809C>T
NC_000019.9:g.55666177C>T
NM_000363.5:c.304G>A MANE Select NP_000354.4:p.Ala102Thr missense
... more HGVS
Protein change
A102T
Other names
-
Canonical SPDI
NC_000019.10:55154808:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Links
ClinGen: CA021485
dbSNP: rs374618872
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 6, 2017 RCV000152087.2
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Nov 30, 2018 RCV001170619.2
Uncertain significance 1 criteria provided, single submitter Oct 10, 2020 RCV001238766.2
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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
Likely benign
(Apr 06, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000730183.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Sep 24, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000200729.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
Ala102Thr in exon 6 of TNNI3: This variant is not expected to have clinical sign ificance due to a lack of conservation across species, including … (more)
Uncertain significance
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001333209.1
Submitted: (Mar 03, 2020)
Evidence details
Uncertain significance
(Nov 30, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001347665.1
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the TNNT (TnT)-binding region of the TNNI3 protein. Computational prediction tools … (more)
Evidence details
Uncertain significance
(Oct 10, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001411595.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces alanine with threonine at codon 102 of the TNNI3 protein (p.Ala102Thr). The alanine 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
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy. Mademont-Soler I PloS one 2017 PMID: 28771489

Text-mined citations for rs374618872...

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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 Jul 07, 2021