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NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Oct 27, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV001092522.28

Allele description [Variation Report for NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)]

NM_000363.5(TNNI3):c.574C>T (p.Arg192Cys)

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.574C>T (p.Arg192Cys)
HGVS:
  • NC_000019.10:g.55151893G>A
  • NG_007866.2:g.10840C>T
  • NG_011829.2:g.2346C>T
  • NM_000363.5:c.574C>TMANE SELECT
  • NP_000354.4:p.Arg192Cys
  • LRG_432t1:c.574C>T
  • LRG_432:g.10840C>T
  • LRG_679:g.2346C>T
  • NC_000019.9:g.55663261G>A
  • NM_000363.4:c.574C>T
Protein change:
R192C
Links:
dbSNP: rs727503499
NCBI 1000 Genomes Browser:
rs727503499
Molecular consequence:
  • NM_000363.5:c.574C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
4

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001249064CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Jun 1, 2018) 		germlineclinical testing

Citation Link,

SCV001823260GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Oct 27, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes4not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV001249064.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided4not providednot providednot provided

From GeneDx, SCV001823260.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Reported in additional unrelated patients with HCM or RCM in published literature (Millat et al., 2010; van den Wijngaard et al., 2011); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21533915, 31064352, 35061126, 33429969, 33841591, 35345275, 34930847, 29907873, 20800588, 31568572, 31995186)

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

Last Updated: Oct 20, 2024