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NM_000363.5(TNNI3):c.190G>T (p.Glu64Ter)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 2, 2018)
Last evaluated:
Dec 22, 2017
Accession:
VCV000525007.1
Variation ID:
525007
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.190G>T (p.Glu64Ter)

Allele ID
533401
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55156293 (GRCh38) GRCh38 UCSC
19: 55667661 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432t1:c.190G>T
LRG_432:g.6440G>T
NC_000019.10:g.55156293C>A
... more HGVS
Protein change
E64*
Other names
-
Canonical SPDI
NC_000019.10:55156292:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA407441911
dbSNP: rs1245885836
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 Dec 22, 2017 RCV000628965.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Dec 22, 2017)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000749875.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change creates a premature translational stop signal (p.Glu64*) in the TNNI3 gene. It is expected to result in an absent or disrupted protein … (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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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 rs1245885836...

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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