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NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 27, 2017
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:
RCV000248954.3

Allele description [Variation Report for NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter)]

NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter)

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.523C>T (p.Gln175Ter)
HGVS:
  • NC_000019.10:g.55154056G>A
  • NG_007866.2:g.8677C>T
  • NG_011829.2:g.183C>T
  • NM_000363.5:c.523C>TMANE SELECT
  • NP_000354.4:p.Gln175Ter
  • LRG_432t1:c.523C>T
  • LRG_432:g.8677C>T
  • LRG_679:g.183C>T
  • NC_000019.9:g.55665424G>A
  • NM_000363.4:c.523C>T
Protein change:
Q175*
Links:
dbSNP: rs876661394
NCBI 1000 Genomes Browser:
rs876661394
Molecular consequence:
  • NM_000363.5:c.523C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000318080Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))		Pathogenic
(Feb 27, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000318080.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

​The p.Q175* mutation (also known as c.523C>T), located in coding exon 7 of the TNNI3 gene, results from a C to T substitution at nucleotide position 523. This changes the amino acid from a glutamine to a stop codon within exon 7. This alteration has been determined to be the result of a likely de novo event in one proband with restrictive cardiomyopathy (RCM) tested in our laboratory. Although the mechanism of disease for this gene is not completely understood, other truncating alterations in TNNI3 have been reported in patients with restrictive cardiomyopathy (RCM) and hypertrophic cardiomyopathy (HCM) (Kaski JP et al. Heart. 2008;94(11):1478-84; Kostareva A et al. Int J Cardiol. 2009;131(3):410-2; Olivotto I et al. J Am Coll Cardiol. 2011;58(8):839-48; van den Wijngaard A et al. Neth Heart J. 2011;19(7-8):344-51). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Jun 23, 2024