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NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 15, 2020
Accession:
VCV000927565.2
Variation ID:
927565
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn)

Allele ID
914881
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154795 (GRCh38) GRCh38 UCSC
19: 55666163 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_432:g.7938G>C
LRG_432t1:c.318G>C
NC_000019.10:g.55154795C>G
... more HGVS
Protein change
K106N
Other names
-
Canonical SPDI
NC_000019.10:55154794:C:G
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 Jul 30, 2019 RCV001190937.1
Uncertain significance 1 criteria provided, single submitter Oct 15, 2020 RCV001297941.1
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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
(Jul 30, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001358580.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces lysine with asparagine at codon 106 of the TNNI3 protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact … (more)
Evidence details
Uncertain significance
(Oct 15, 2020)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV001486980.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces lysine with asparagine at codon 106 of the TNNI3 protein (p.Lys106Asn). 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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Title Author Journal Year Link
Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy. Bos JM Mayo Clinic proceedings 2014 PMID: 24793961

Record last updated Oct 08, 2021