NM_000363.5(TNNI3):c.179A>G (p.Glu60Gly) AND Cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Nov 4, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_000363.5(TNNI3):c.179A>G (p.Glu60Gly)]

NM_000363.5(TNNI3):c.179A>G (p.Glu60Gly)

TNNI3:troponin I3, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_000363.5(TNNI3):c.179A>G (p.Glu60Gly)
  • NC_000019.10:g.55156304T>C
  • NG_007866.2:g.6429A>G
  • NM_000363.5:c.179A>GMANE SELECT
  • NP_000354.4:p.Glu60Gly
  • LRG_432t1:c.179A>G
  • LRG_432:g.6429A>G
  • NC_000019.9:g.55667672T>C
  • NM_000363.4:c.179A>G
Protein change:
Molecular consequence:
  • NM_000363.5:c.179A>G - missense variant - [Sequence Ontology: SO:0001583]


Cardiomyopathy (CMYO)
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001356281Color Health, Inccriteria provided, single submitter
Uncertain significance
(Nov 4, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]


This missense variant replaces glutamic acid with glycine at codon 60 of the TNNI3 protein. Computational prediction tool suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold ≥0.7, PMID: 27666373). Splice site prediction tools suggest that this variant may not impact RNA splicing. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with cardiovascular disorders in the literature. 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.


Summary from all submissions

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



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Details of each submission

From Color Health, Inc, SCV001356281.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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