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NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Jan 22, 2016
Accession:
VCV000229335.2
Variation ID:
229335
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.624T>G (p.Phe208Leu)

Allele ID
231076
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151843 (GRCh38) GRCh38 UCSC
19: 55663211 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.55151843A>C
NC_000019.9:g.55663211A>C
NM_000363.5:c.624T>G MANE Select NP_000354.4:p.Phe208Leu missense
... more HGVS
Protein change
F208L
Other names
-
Canonical SPDI
NC_000019.10:55151842:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10577112
dbSNP: rs876658026
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 Jan 22, 2016 RCV000216343.1
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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
(Jan 22, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000272526.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Phe208Leu variant in TNNI3 has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation … (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 rs876658026...

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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