NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe) AND Pyruvate dehydrogenase E1-alpha deficiency

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 9, 2002
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:: RCV000011640.11

Allele description [Variation Report for NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)]

NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)

Gene:

PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

Preferred name:

NM_000284.4(PDHA1):c.648A>C (p.Leu216Phe)

HGVS:

NC_000023.11:g.19355393A>C
NG_016781.1:g.16501A>C
NM_000284.4:c.648A>CMANE SELECT
NM_001173454.2:c.762A>C
NM_001173455.2:c.669A>C
NM_001173456.2:c.555A>C
NP_000275.1:p.Leu216Phe
NP_001166925.1:p.Leu254Phe
NP_001166926.1:p.Leu223Phe
NP_001166927.1:p.Leu185Phe
NC_000023.10:g.19373511A>C

Protein change:

L185F; LEU216PHE

Links:

OMIM: 300502.0023; dbSNP: rs121917898

NCBI 1000 Genomes Browser:

rs121917898

Molecular consequence:

NM_000284.4:c.648A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001173454.2:c.762A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001173455.2:c.669A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001173456.2:c.555A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Synonyms:: X-linked Leigh syndrome; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; ATAXIA WITH LACTIC ACIDOSIS I; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010717; MedGen: C1839413; OMIM: 312170

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000031872	OMIM	no assertion criteria provided	Pathogenic (Oct 9, 2002)	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

SCV000031872

OMIM

no assertion criteria provided

Pathogenic
(Oct 9, 2002)

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

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.

Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Ogawa Y, Kitamura S, Takada E, Horii Y, Kuroda Y.

Biochim Biophys Acta. 2002 Oct 9;1588(1):79-84.

PubMed [citation]

PMID:: 12379317

Details of each submission

From OMIM, SCV000031872.4

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

Description

In a male patient with thiamine-responsive pyruvate dehydrogenase E1-alpha deficiency (PDHAD; 312170), Naito et al. (2002) identified a 648A-C transversion in exon 7 of the PDHA1 gene, resulting in a leu216-to-phe (L216F) substitution within the thiamine pyrophosphate-binding region. The patient's mother was heterozygous for the mutation.

#	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: Apr 23, 2022

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