NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) AND Cardiomyopathy, familial restrictive, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2003
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000013238.24

Allele description [Variation Report for NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)]

NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)

Gene:

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.42

Genomic location:

Preferred name:

NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)

HGVS:

NC_000019.10:g.55154047T>C
NG_007866.2:g.8686A>G
NG_011829.2:g.192A>G
NM_000363.5:c.532A>GMANE SELECT
NP_000354.4:p.Lys178Glu
LRG_432t1:c.532A>G
LRG_432:g.8686A>G
LRG_432p1:p.Lys178Glu
LRG_679:g.192A>G
NC_000019.9:g.55665415T>C
NM_000363.4:c.532A>G
P19429:p.Lys178Glu

Protein change:

K178E; LYS178GLU

Links:

UniProtKB: P19429#VAR_016082; OMIM: 191044.0007; dbSNP: rs104894730

NCBI 1000 Genomes Browser:

rs104894730

Molecular consequence:

NM_000363.5:c.532A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiomyopathy, familial restrictive, 1
Identifiers:: MONDO: MONDO:0007270; MedGen: C1861861; Orphanet: 75249; OMIM: 115210

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000033485	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2003)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 12531876, 10098965

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000033485

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2003)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

Mogensen J, Kubo T, Duque M, Uribe W, Shaw A, Murphy R, Gimeno JR, Elliott P, McKenna WJ.

J Clin Invest. 2003 Jan;111(2):209-16. Erratum in: J Clin Invest. 2003 Mar;111(6):925.

PubMed [citation]

PMID:: 12531876
PMCID:: PMC151864

Troponin I: inhibitor or facilitator.

Perry SV.

Mol Cell Biochem. 1999 Jan;190(1-2):9-32. Review.

PubMed [citation]

PMID:: 10098965

Details of each submission

From OMIM, SCV000033485.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In a young individual with idiopathic restrictive cardiomyopathy (RCM1;115210), Mogensen et al. (2003) identified a de novo 886A-G transition in exon 7 of the TNNI3 gene, resulting in a lys178-to-glu (K178E) substitution. Amino acids 173-181 bind to actin and increase the inhibitory effect of troponin I (Perry, 1999).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 5, 2022

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