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NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) AND Cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003532121.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)]

NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)

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.539A>G (p.Asp180Gly)
HGVS:
  • NC_000019.10:g.55154040T>C
  • NG_007866.2:g.8693A>G
  • NG_011829.2:g.199A>G
  • NM_000363.5:c.539A>GMANE SELECT
  • NP_000354.4:p.Asp180Gly
  • LRG_432t1:c.539A>G
  • LRG_432:g.8693A>G
  • LRG_679:g.199A>G
  • NC_000019.9:g.55665408T>C
  • NM_000363.4:c.539A>G
Protein change:
D180G
Links:
dbSNP: rs1060499912
NCBI 1000 Genomes Browser:
rs1060499912
Molecular consequence:
  • NM_000363.5:c.539A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004359896Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 19, 2023) 		germlineclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J.

Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. doi: 10.1161/CIRCGENETICS.109.912345. Epub 2010 Mar 9.

PubMed [citation]
PMID:
20215591
PMCID:
PMC2908892

The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF.

Circ Cardiovasc Genet. 2010 Jun;3(3):232-9. doi: 10.1161/CIRCGENETICS.109.903898. Epub 2010 Jun 8.

PubMed [citation]
PMID:
20530761
See all PubMed Citations (12)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV004359896.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

This missense variant replaces aspartic acid with glycine at codon 180 of the TNNI3 protein. Computational prediction is inconclusive regarding the impact of this variant on protein structure and function (internally defined REVEL score threshold 0.5 < inconclusive < 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in individuals affected with dilated cardiomyopathy (PMID: 20215591, 21483645, 23785128, 25163546, 30847666, 31112419, 31737537). It has also been reported in an individual affected with left ventricular noncompaction (PMID: 20530761, 21533915, 31771441) and in an individual affected with noncompaction cardiomyopathy (PMID: 29447731). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024