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NM_000363.5(TNNI3):c.206G>A (p.Arg69His)

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 22, 2020)
Last evaluated:
Jun 16, 2020
Accession:
VCV000992364.1
Variation ID:
992364
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.206G>A (p.Arg69His)

Allele ID
980392
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55156277 (GRCh38) GRCh38 UCSC
19: 55667645 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55156277C>T
NC_000019.9:g.55667645C>T
NM_000363.5:c.206G>A MANE Select NP_000354.4:p.Arg69His missense
... more HGVS
Protein change
R69H
Other names
-
Canonical SPDI
NC_000019.10:55156276:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 no assertion criteria provided Jun 16, 2020 RCV001280802.1
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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
(Jun 16, 2020)
no assertion criteria provided
Method: clinical testing
Familial hypertrophic cardiomyopathy 7
Allele origin: germline
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare
Accession: SCV001468136.1
Submitted: (Dec 22, 2020)
Evidence details

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.

Record last updated Feb 19, 2021