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NM_000363.5(TNNI3):c.562G>A (p.Val188Met)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Apr 11, 2018)
Last evaluated:
Oct 27, 2016
Accession:
VCV000036883.1
Variation ID:
36883
Description:
single nucleotide variant
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NM_000363.5(TNNI3):c.562G>A (p.Val188Met)

Allele ID
45544
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.42
Genomic location
19: 55151905 (GRCh38) GRCh38 UCSC
19: 55663273 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.55663273C>T
NC_000019.10:g.55151905C>T
NM_000363.5:c.562G>A MANE Select NP_000354.4:p.Val188Met missense
... more HGVS
Protein change
V188M
Other names
p.V188M:GTG>ATG
Canonical SPDI
NC_000019.10:55151904:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021922
dbSNP: rs193922409
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 Dec 24, 2015 RCV000159240.2
Uncertain significance 1 criteria provided, single submitter Oct 27, 2016 RCV000625703.1
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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
433 488

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 27, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696596.2
Submitted: (Apr 11, 2018)
Evidence details
Comment:
Variant summary: The TNNI3 c.562G>A (p.Val188Met) variant involves the alteration of a conserved nucleotide. 4/5 in silico tools predict a damaging outcome for this substitution. … (more)
Likely pathogenic
(Dec 24, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209186.12
Submitted: (Nov 28, 2017)
Evidence details
Comment:
The Val188Met variant in the TNNI3 gene has not been reported as a disease-causing mutation or as a benign polymorphism to our knowledge. Val188Met results … (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 rs193922409...

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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 Jun 14, 2021