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NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 19, 2020)
Last evaluated:
Jul 3, 2019
Accession:
VCV000043374.5
Variation ID:
43374
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)

Allele ID
52544
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154806 (GRCh38) GRCh38 UCSC
19: 55666174 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55154806G>A
NC_000019.9:g.55666174G>A
NM_000363.5:c.307C>T MANE Select NP_000354.4:p.Arg103Cys missense
... more HGVS
Protein change
R103C
Other names
-
Canonical SPDI
NC_000019.10:55154805:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA021492
dbSNP: rs397516344
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 Mar 16, 2015 RCV000036283.3
Uncertain significance 1 criteria provided, single submitter Jul 3, 2019 RCV000853159.1
Uncertain significance 1 criteria provided, single submitter Nov 16, 2018 RCV001188098.1
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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 03, 2019)
criteria provided, single submitter
Method: research
Primary familial hypertrophic cardiomyopathy
Allele origin: germline
Klaassen Lab,Charite University Medicine Berlin
Accession: SCV000995873.1
Submitted: (Jul 17, 2019)
Evidence details
Publications
PubMed (2)
Uncertain significance
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001355066.1
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Mar 16, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000059935.6
Submitted: (Mar 21, 2019)
Evidence details
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory

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
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3. K├╝hnisch J Clinical genetics 2019 PMID: 31568572
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy. Al-Wakeel-Marquard N Journal of the American Heart Association 2019 PMID: 31333075

Text-mined citations for rs397516344...

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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 Jul 07, 2021