NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) AND not provided

Clinical significance:Pathogenic (Last evaluated: Oct 25, 2012)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000159235.1

Allele description [Variation Report for NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)]

NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys)

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.544G>A (p.Glu182Lys)
Other names:
p.E182K:GAG>AAG
HGVS:
  • NC_000019.10:g.55154035C>T
  • NG_007866.2:g.8698G>A
  • NG_011829.2:g.204G>A
  • NM_000363.5:c.544G>AMANE SELECT
  • NP_000354.4:p.Glu182Lys
  • LRG_432t1:c.544G>A
  • LRG_432:g.8698G>A
  • LRG_679:g.204G>A
  • NC_000019.9:g.55665403C>T
  • NM_000363.4:c.544G>A
  • c.544G>A
Protein change:
E182K
Links:
dbSNP: rs397516355
NCBI 1000 Genomes Browser:
rs397516355
Molecular consequence:
  • NM_000363.5:c.544G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000209181GeneDxcriteria provided, single submitter
Pathogenic
(Oct 25, 2012)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000209181.9

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

Description

The Glu182Lys mutation in the TNNI3 gene has been reported in association with cardiomyopathy (Lakdawala N et al., 2012). Lakdawla et al. reported Glu182Lys occurred de novo in one patient with DCM and it was absent from approximately 400 control samples. Also, the NHLBI ESP Exome Variant Server reports Glu182Lys was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Glu182Lys results in a non-conservative amino acid substitution of a negatively charged Glutamic acid with a positively charged Lysine at a position that is highly conserved across species. Furthermore, mutations in nearby codons (Lys183Asn, Lys183Glu, Asn185Lys, Arg186Gln) have been reported in association with cardiomyopathy, supporting the functional importance of this region of the protein. In summary, Glu182Lys in the TNNI3 gene is interpreted as a disease-causing mutation. The variant is found in DCM panel(s).

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

Last Updated: Aug 27, 2021

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