NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) AND Primary dilated cardiomyopathy

Clinical significance:Uncertain significance (Last evaluated: Dec 16, 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_006440.5(TXNRD2):c.869G>T (p.Gly290Val)]

NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)

TXNRD2:thioredoxin reductase 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val)
  • NC_000022.11:g.19895487C>A
  • NG_011835.1:g.51350G>T
  • NM_001282512.3:c.869G>T
  • NM_001352300.2:c.866G>T
  • NM_001352301.1:c.779G>T
  • NM_001352302.1:c.581G>T
  • NM_001352303.1:c.773G>T
  • NM_006440.5:c.869G>TMANE SELECT
  • NP_001269441.1:p.Gly290Val
  • NP_001339229.1:p.Gly289Val
  • NP_001339230.1:p.Gly260Val
  • NP_001339231.1:p.Gly194Val
  • NP_001339232.1:p.Gly258Val
  • NP_006431.2:p.Gly290Val
  • LRG_417t1:c.869G>T
  • LRG_417:g.51350G>T
  • NC_000022.10:g.19883010C>A
  • NM_006440.3:c.869G>T
  • NM_006440.4:c.869G>T
  • NR_147957.2:n.827G>T
Protein change:
dbSNP: rs543290126
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001282512.3:c.869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352300.2:c.866G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352301.1:c.779G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352302.1:c.581G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352303.1:c.773G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_006440.5:c.869G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_147957.2:n.827G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]


Primary dilated cardiomyopathy (DCM)
Congestive cardiomyopathy; Dilated Cardiomyopathy
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV001217709Invitaecriteria provided, single submitter
Uncertain significance
(Dec 16, 2019)
germlineclinical testing

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

Summary from all submissions

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



Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]

Details of each submission

From Invitae, SCV001217709.2

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


This sequence change replaces glycine with valine at codon 290 of the TXNRD2 protein (p.Gly290Val). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs543290126, ExAC 0.2%). This variant has not been reported in the literature in individuals with TXNRD2-related conditions. ClinVar contains an entry for this variant (Variation ID: 518783). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 29, 2021

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