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NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Sep 2, 2019
Accession:
VCV000487631.2
Variation ID:
487631
Description:
single nucleotide variant
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NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)

Allele ID
480671
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1q32.1
Genomic location
1: 201373252 (GRCh38) GRCh38 UCSC
1: 201342380 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.201342380C>T
NC_000001.11:g.201373252C>T
NG_007556.1:g.9426G>A
... more HGVS
Protein change
M1I
Other names
-
Canonical SPDI
NC_000001.11:201373251:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA344209130
dbSNP: rs1289914935
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 Sep 2, 2019 RCV001508034.1
Likely pathogenic 1 no assertion criteria provided Jul 14, 2017 RCV000656211.1
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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
584 599

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 02, 2019)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV001713934.1
Submitted: (May 26, 2021)
Evidence details
Likely pathogenic
(Jul 14, 2017)
no assertion criteria provided
Method: research
Wolff-Parkinson-White pattern
Allele origin: inherited
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
Study: Candidate_variants_in_patients_with_ Wolff-Parkinson-White Syndrome
Accession: SCV000678405.1
Submitted: (Aug 26, 2017)
Evidence details
Comment:
This variant was identified in an individual with Wolff-Parkinson-White syndrome

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1289914935...

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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 Sep 06, 2021