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NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu) AND Cardiomyopathy

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Feb 5, 2024
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:
RCV001185063.6

Allele description [Variation Report for NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)]

NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)

Gene:
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q32.1
Genomic location:
Preferred name:
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
HGVS:
  • NC_000001.11:g.201365644G>A
  • NG_007556.1:g.17034C>T
  • NM_000364.4:c.260C>T
  • NM_001001430.3:c.230C>T
  • NM_001001431.3:c.230C>T
  • NM_001001432.3:c.215C>T
  • NM_001276345.2:c.260C>TMANE SELECT
  • NM_001276346.2:c.257C>T
  • NM_001276347.2:c.230C>T
  • NP_000355.2:p.Pro87Leu
  • NP_001001430.1:p.Pro77Leu
  • NP_001001431.1:p.Pro77Leu
  • NP_001001432.1:p.Pro72Leu
  • NP_001263274.1:p.Pro87Leu
  • NP_001263275.1:p.Pro86Leu
  • NP_001263276.1:p.Pro77Leu
  • LRG_431t1:c.260C>T
  • LRG_431:g.17034C>T
  • LRG_431p1:p.Pro87Leu
  • NC_000001.10:g.201334772G>A
  • NM_000364.2:c.260C>T
  • NM_001001430.1:c.230C>T
  • NM_001001430.2:c.230C>T
  • NM_001276345.2:c.260C>T
  • c.230C>T
Protein change:
P72L
Links:
dbSNP: rs144900708
NCBI 1000 Genomes Browser:
rs144900708
Molecular consequence:
  • NM_000364.4:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001430.3:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001431.3:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001001432.3:c.215C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276345.2:c.260C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276346.2:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276347.2:c.230C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
7

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
SCV001351204Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 15, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

SCV004821981All of Us Research Program, National Institutes of Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain Significance
(Feb 5, 2024) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown7not providednot provided108544not providedclinical testing

Citations

PubMed

Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.

Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ.

Circulation. 2001 Sep 18;104(12):1380-4.

PubMed [citation]
PMID:
11560853

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 (3)

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV001351204.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This missense variant replaces proline with leucine at codon 77 of the TNNT2 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy and sudden cardiac death (PMID: 11560853) and in an individual affected with left ventricular noncompaction cardiomyopathy (PMID: 20530761). This variant has been identified in 10/251110 chromosomes 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

From All of Us Research Program, National Institutes of Health, SCV004821981.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedclinical testing PubMed (3)

Description

This missense variant replaces proline with leucine at codon 77 of the TNNT2 protein. Computational prediction suggests that this variant may have a deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with hypertrophic cardiomyopathy and sudden cardiac death (PMID: 11560853) and in an individual affected with left ventricular noncompaction cardiomyopathy (PMID: 20530761). This variant has been identified in 10/251110 chromosomes 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
1germlineunknown108544not providednot provided7not providednot providednot provided

Last Updated: Oct 13, 2024