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NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter) AND Ethylmalonic encephalopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 31, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001920091.4

Allele description [Variation Report for NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter)]

NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter)

Gene:
ETHE1:ETHE1 persulfide dioxygenase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.31
Genomic location:
Preferred name:
NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter)
HGVS:
  • NC_000019.10:g.43526251G>A
  • NG_008141.1:g.5994C>T
  • NM_001320867.2:c.292C>T
  • NM_001320868.2:c.6+264C>T
  • NM_001320869.2:c.81+846C>T
  • NM_014297.5:c.325C>TMANE SELECT
  • NP_001307796.1:p.Gln98Ter
  • NP_055112.2:p.Gln109Ter
  • NC_000019.9:g.44030403G>A
Protein change:
Q109*
Links:
dbSNP: rs2146018812
NCBI 1000 Genomes Browser:
rs2146018812
Molecular consequence:
  • NM_001320868.2:c.6+264C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320869.2:c.81+846C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001320867.2:c.292C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014297.5:c.325C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ethylmalonic encephalopathy (EE)
Synonyms:
EPEMA syndrome; Encephalopathy, petechiae, and ethylmalonic aciduria; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
Identifiers:
MONDO: MONDO:0011229; MedGen: C1865349; Orphanet: 51188; OMIM: 602473

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002161114Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 31, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M.

Am J Hum Genet. 2004 Feb;74(2):239-52. Epub 2004 Jan 19.

PubMed [citation]
PMID:
14732903
PMCID:
PMC1181922

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.

Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M.

Nat Med. 2009 Feb;15(2):200-5. doi: 10.1038/nm.1907. Epub 2009 Jan 11. Erratum in: Nat Med. 2009 Feb;15(2):220.

PubMed [citation]
PMID:
19136963
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002161114.3

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with ETHE1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln109*) in the ETHE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ETHE1 are known to be pathogenic (PMID: 14732903, 19136963).

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

Last Updated: Sep 29, 2024