NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys) AND Pyruvate dehydrogenase E1-alpha deficiency

Germline classification:: Pathogenic (1 submission)
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:: RCV004763690.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)]

NM_000284.4(PDHA1):c.262C>T (p.Arg88Cys)

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.262C>T (p.Arg88Cys)

HGVS:

NC_000023.11:g.19350081C>T
NG_016781.1:g.11189C>T
NM_000284.4:c.262C>TMANE SELECT
NM_001173454.2:c.376C>T
NM_001173455.2:c.262C>T
NM_001173456.2:c.262C>T
NP_000275.1:p.Arg88Cys
NP_001166925.1:p.Arg126Cys
NP_001166926.1:p.Arg88Cys
NP_001166927.1:p.Arg88Cys
NC_000023.10:g.19368199C>T
NM_000284.3:c.262C>T

Protein change:

R126C

Molecular consequence:

NM_000284.4:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001173454.2:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001173455.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001173456.2:c.262C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV005326558	Bioinformatics Unit, Institut Pasteur de Montevideo	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005326558

Bioinformatics Unit, Institut Pasteur de Montevideo

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

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	yes	1	not provided	not provided	not provided	not provided	clinical 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 Bioinformatics Unit, Institut Pasteur de Montevideo, SCV005326558.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)

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

Last Updated: Oct 20, 2024

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