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NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 5, 2020
Accession:
VCV000165516.5
Variation ID:
165516
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln)

Allele ID
176214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154070 (GRCh38) GRCh38 UCSC
19: 55665438 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55154070C>T
NC_000019.9:g.55665438C>T
NM_000363.5:c.509G>A MANE Select NP_000354.4:p.Arg170Gln missense
... more HGVS
Protein change
R170Q
Other names
p.R170Q:CGG>CAG
Canonical SPDI
NC_000019.10:55154069:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021784
dbSNP: rs727503503
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Mar 4, 2015 RCV000152076.2
Pathogenic 2 criteria provided, single submitter Apr 21, 2017 RCV000159232.4
Pathogenic 1 criteria provided, single submitter Oct 5, 2020 RCV000540068.4
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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
Pathogenic
(Apr 21, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209178.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The Arg170Gln mutation in the TNNI3 gene has been published previously in one individual with HCM (Kaski J et al., 2009). This study reported that … (more)
Pathogenic
(Mar 04, 2015)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Restrictive cardiomyopathy
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000200714.5
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (2)
Comment:
The p.Arg170Gln variant in TNNI3 has been reported in 1 child with HCM (Kaski 20 09) and was identified by our laboratory in 6 individuals … (more)
Pathogenic
(Oct 05, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000623788.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces arginine with glutamine at codon 170 of the TNNI3 protein (p.Arg170Gln). The arginine residue is highly conserved and there is a … (more)
Likely pathogenic
(Oct 16, 2013)
no assertion criteria provided
Method: clinical testing
Not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280510.1
Submitted: (May 06, 2016)
Evidence details
Comment:
Note this variant was found in clinical genetic testing performed by one or more labs who may also submit to ClinVar. Thus any internal case … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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
Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy. Mouton JM Cardiovascular journal of Africa 2015 PMID: 25940119
Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy. Kaski JP Circulation. Cardiovascular genetics 2009 PMID: 20031618
Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype. Kubo T Journal of the American College of Cardiology 2007 PMID: 17599605

Text-mined citations for rs727503503...

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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