NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) AND Ventricular tachycardia, catecholaminergic polymorphic, 3

Clinical significance:Pathogenic (Last evaluated: Feb 28, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412644.2

Allele description [Variation Report for NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)]

NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)

Gene:
TECRL:trans-2,3-enoyl-CoA reductase like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q13.1
Genomic location:
Preferred name:
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln)
HGVS:
  • NC_000004.12:g.64309896C>T
  • NG_053152.1:g.104614G>A
  • NM_001010874.5:c.587G>AMANE SELECT
  • NM_001363796.1:c.587G>A
  • NP_001010874.2:p.Arg196Gln
  • NP_001350725.1:p.Arg196Gln
  • NC_000004.11:g.65175614C>T
  • NM_001010874.4:c.587G>A
Protein change:
R196Q; ARG196GLN
Links:
OMIM: 617242.0002; dbSNP: rs773204795
NCBI 1000 Genomes Browser:
rs773204795
Molecular consequence:
  • NM_001010874.5:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363796.1:c.587G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Ventricular tachycardia, catecholaminergic polymorphic, 3 (CPVT3)
Identifiers:
MONDO: MONDO:0013529; MedGen: C3151463; Orphanet: 3286; OMIM: 614021

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000490359OMIMno assertion criteria providedPathogenic
(Feb 28, 2020)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.

Devalla HD, Gélinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, Chaix MA, Tadros R, Jiang H, Le Béchec A, Monshouwer-Kloots JJ, Zwetsloot T, Kosmidis G, Latour F, Alikashani A, Hoekstra M, Schlaepfer J, Mummery CL, Stevenson B, Kutalik Z, de Vries AA, Rivard L, et al.

EMBO Mol Med. 2016 Dec 1;8(12):1390-1408. doi: 10.15252/emmm.201505719. Print 2016 Dec.

PubMed [citation]
PMID:
27861123
PMCID:
PMC5167130

A compound heterozygosity of Tecrl gene confirmed in a catecholaminergic polymorphic ventricular tachycardia family.

Xie L, Hou C, Jiang X, Zhao J, Li Y, Xiao T.

Eur J Med Genet. 2019 Jul;62(7):103631. doi: 10.1016/j.ejmg.2019.01.018. Epub 2019 Feb 18.

PubMed [citation]
PMID:
30790670

Details of each submission

From OMIM, SCV000490359.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In 2 unrelated French Canadian women with catecholaminergic polymorphic ventricular tachycardia and prolongation of the QT interval (CPVT3; 614021), Devalla et al. (2016) identified homozygosity for a G-A transition (NM_001010874.4) in exon 6 of the TECRL gene, resulting in an arg196-to-gln (R196Q) substitution. The mutation was not found in 540 European-derived chromosomes; DNA was unavailable from family members.

In a 13-year-old boy with CPVT3, Xie et al. (2019) identified compound heterozygosity for mutations in the TECRL gene: the R196Q mutation and a splice site mutation (c.918+3G-T; 617242.0003) between the 9th and 10th exons. The unaffected parents were each heterozygous for one of the mutations. The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing. The proband's older brother had experienced sudden death at 12 years of age but his DNA was not available for testing.

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

Last Updated: Sep 29, 2021

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