NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs) AND Glutaric aciduria, type 2

Clinical significance:Pathogenic (Last evaluated: Mar 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000698712.1

Allele description [Variation Report for NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)]

NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)

Gene:
ETFDH:electron transfer flavoprotein dehydrogenase [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q32.1
Genomic location:
Preferred name:
NM_004453.3(ETFDH):c.302_303dupGT (p.Leu102Valfs)
HGVS:
  • NC_000004.12:g.158682321_158682322dupGT
  • NG_007078.2:g.14980_14981dup
  • NM_004453.3:c.302_303dupGT
  • NP_004444.2:p.Leu102Valfs
  • NC_000004.11:g.159603473_159603474dupGT
  • NM_004453.2:c.302_303dupGT
  • p.L102VfsX2
Links:
dbSNP: rs796051962
NCBI 1000 Genomes Browser:
rs796051962
Molecular consequence:
  • NM_004453.3:c.302_303dupGT - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Glutaric aciduria, type 2 (MADD)
Synonyms:
GA II; GLUTARIC ACIDURIA II; Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Identifiers:
MedGen: C0268596; Orphanet: 26791; OMIM: 231680

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000827392Invitaecriteria provided, single submitter
Pathogenic
(Mar 1, 2018)
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

Citations

PubMed

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.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000827392.1

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

Description

This sequence change creates a premature translational stop signal (p.Leu102Valfs*2) in the ETFDH gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ETFDH-related disease. ClinVar contains an entry for this variant (Variation ID: 203727). Loss-of-function variants in ETFDH are known to be pathogenic (PMID: 16510302, 23785301). For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Mar 30, 2019

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