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NM_001276345.2(TNNT2):c.601-1G>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jun 11, 2021)
Last evaluated:
Feb 19, 2021
Accession:
VCV000132940.7
Variation ID:
132940
Description:
single nucleotide variant
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NM_001276345.2(TNNT2):c.601-1G>A

Allele ID
136689
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 201362395 (GRCh38) GRCh38 UCSC
1: 201331523 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.201331523C>T
NC_000001.11:g.201362395C>T
NM_001276345.2:c.601-1G>A MANE Select splice acceptor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000001.11:201362394:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA004779
dbSNP: rs483352835
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 11, 2015 RCV000159305.3
Uncertain significance 2 criteria provided, single submitter Jul 25, 2018 RCV000223749.2
Uncertain significance 1 criteria provided, single submitter Oct 15, 2020 RCV000475521.4
Uncertain significance 1 criteria provided, single submitter Feb 19, 2021 RCV001189180.2
Uncertain significance 1 no assertion criteria provided - RCV000119341.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TNNT2 No evidence available No evidence available GRCh38
GRCh37
574 589

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209251.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.571-1 G>A variant of uncertain significance in the TNNT2 gene has been identified in one individual with early onset, severe HCM who also harbored … (more)
Uncertain significance
(Nov 11, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272529.3
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
Variant classified as Uncertain Significance - Favor Pathogenic. The c.571-1G>A variant in TNNT2 has been reported in 4 individuals with cardiomyopathy (1 child DCM; 1 … (more)
Uncertain significance
(Oct 15, 2020)
criteria provided, single submitter
Method: clinical testing
Familial restrictive cardiomyopathy 3
Familial hypertrophic cardiomyopathy 2
Left ventricular noncompaction 6
Allele origin: germline
Invitae
Accession: SCV000541924.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change affects an acceptor splice site in intron 11 of the TNNT2 gene. It is expected to disrupt RNA splicing and likely results … (more)
Uncertain significance
(Feb 19, 2021)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001356415.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This variant (also known as IVS11-1G>A) causes a G>A nucleotide substitution at the -1 position of intron 11 of the TNNT2 gene. Splice prediction tools … (more)
unknown
(-)
no assertion criteria provided
Method: not provided
not provided
Allele origin: not provided
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology
Accession: SCV000154238.2
Submitted: (Dec 16, 2014)
Evidence details
Comment:
Converted during submission to Uncertain significance.
Likely pathogenic
(Sep 30, 2010)
no assertion criteria provided
Method: clinical testing
Not provided
Allele origin: germline
Stanford Center for Inherited Cardiovascular Disease, Stanford University
Accession: SCV000280530.1
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
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
A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM). Rani DS PloS one 2014 PMID: 24992688
Genetic and biochemical heterogeneity of cardiac troponins: clinical and laboratory implications. Lippi G Clinical chemistry and laboratory medicine 2009 PMID: 19754353
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. Van Driest SL Journal of the American College of Cardiology 2004 PMID: 15358028

Text-mined citations for rs483352835...

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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