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NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 6, 2020)
Last evaluated:
Jun 14, 2019
Accession:
VCV000945741.1
Variation ID:
945741
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)

Allele ID
929117
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151847 (GRCh38) GRCh38 UCSC
19: 55663215 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432:g.10886A>G
LRG_432t1:c.620A>G
LRG_679:g.2392A>G
... more HGVS
Protein change
K207R
Other names
-
Canonical SPDI
NC_000019.10:55151846:T:C
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 criteria provided, single submitter Jun 14, 2019 RCV001216456.1
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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 14, 2019)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001388253.1
Submitted: (Feb 06, 2020)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 207 of the TNNI3 protein (p.Lys207Arg). The lysine residue is highly conserved and there is a … (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.

Record last updated Oct 08, 2021