NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro) AND Mitochondrial trifunctional protein deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1997
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000009273.4

Allele description [Variation Report for NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro)]

NM_000182.5(HADHA):c.1025T>C (p.Leu342Pro)

Gene:

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.1025T>C (p.Leu342Pro)

HGVS:

NC_000002.12:g.26209840A>G
NG_007121.1:g.39781T>C
NM_000182.5:c.1025T>CMANE SELECT
NP_000173.2:p.Leu342Pro
LRG_747t1:c.1025T>C
LRG_747p1:p.Leu342Pro
NC_000002.11:g.26432709A>G
P40939:p.Leu342Pro

Protein change:

L342P; LEU342PRO

Links:

UniProtKB: P40939#VAR_021127; OMIM: 600890.0007; dbSNP: rs137852772

NCBI 1000 Genomes Browser:

rs137852772

Molecular consequence:

NM_000182.5:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mitochondrial trifunctional protein deficiency
Identifiers:: MONDO: MONDO:0012172; MedGen: C1969443; Orphanet: 746; OMIM: PS609015

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000029491	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1997)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000029491

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1997)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

IJlst L, Oostheim W, Ruiter JP, Wanders RJ.

J Inherit Metab Dis. 1997 Jul;20(3):420-2. No abstract available.

PubMed [citation]

PMID:: 9266371

Details of each submission

From OMIM, SCV000029491.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the leu342-to-pro (L342P) mutation in the HADHA gene that was found in compound heterozygous state in patients with LCHAD deficiency (609016) by IJlst et al. (1997), see 600890.0006.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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