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NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 10, 2018
Accession:
VCV000578588.2
Variation ID:
578588
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro)

Allele ID
571092
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55154175 (GRCh38) GRCh38 UCSC
19: 55665543 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_679:g.64T>C
LRG_432t1:c.404T>C
LRG_432:g.8558T>C
... more HGVS
Protein change
L135P
Other names
-
Canonical SPDI
NC_000019.10:55154174:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1568858210
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 10, 2018 RCV000701643.2
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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
Likely pathogenic
(Sep 10, 2018)
criteria provided, single submitter
Method: clinical testing
Hypertrophic cardiomyopathy
Allele origin: germline
Invitae
Accession: SCV000830454.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with proline at codon 135 of the TNNI3 protein (p.Leu135Pro). The leucine 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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy. Jordan DM American journal of human genetics 2011 PMID: 21310275

Text-mined citations for rs1568858210...

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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 Oct 08, 2021