NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Aug 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000850071.1

Allele description [Variation Report for NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)]

NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)

Genes:
GAREM2:GRB2 associated regulator of MAPK1 subtype 2 [Gene - OMIM - HGNC]
HADHA:hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_000182.5(HADHA):c.1645A>G (p.Arg549Gly)
HGVS:
  • NC_000002.12:g.26194614T>C
  • NG_007121.1:g.55007A>G
  • NM_000182.5:c.1645A>GMANE SELECT
  • NP_000173.2:p.Arg549Gly
  • LRG_747t1:c.1645A>G
  • LRG_747p1:p.Arg549Gly
  • NC_000002.11:g.26417483T>C
  • NM_000182.4:c.1645A>G
Protein change:
R549G
Links:
dbSNP: rs1574603062
NCBI 1000 Genomes Browser:
rs1574603062
Molecular consequence:
  • NM_000182.5:c.1645A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial trifunctional protein deficiency (MTPD)
Synonyms:
Trifunctional protein deficiency with myopathy and neuropathy; Trifunctional protein deficiency type 1; TFP deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0012172; MedGen: C1969443; Orphanet: 746; OMIM: 609015
Name:
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Synonyms:
Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase
Identifiers:
MONDO: MONDO:0012173; MedGen: C3711645; Orphanet: 5; OMIM: 609016

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000992236Kariminejad - Najmabadi Pathology & Genetics Centercriteria provided, single submitter
Likely pathogenic
(Aug 7, 2018)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Kariminejad - Najmabadi Pathology & Genetics Center, SCV000992236.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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