NM_000284.3(PDHA1):c.523G>A (p.Ala175Thr) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000680062.1

Allele description [Variation Report for NM_000284.3(PDHA1):c.523G>A (p.Ala175Thr)]

NM_000284.3(PDHA1):c.523G>A (p.Ala175Thr)

Gene:
PDHA1:pyruvate dehydrogenase E1 alpha 1 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.3(PDHA1):c.523G>A (p.Ala175Thr)
HGVS:
  • NC_000023.11:g.19354503G>A
  • NG_016781.1:g.15611G>A
  • NM_000284.3:c.523G>A
  • NM_001173456.1:c.511-846G>A
  • NP_000275.1:p.Ala175Thr
  • NC_000023.10:g.19372621G>A
Protein change:
A175T
Molecular consequence:
  • NM_001173456.1:c.511-846G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000284.3:c.523G>A - 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:
MedGen: C1839413; OMIM: 312170

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000807502Baylor Miraca Genetics Laboratories,criteria provided, single submitter
Pathogenic
(Sep 1, 2017)
germlineclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.

Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH.

Am J Hum Genet. 1995 Mar;56(3):558-69.

PubMed [citation]
PMID:
7887409
PMCID:
PMC1801155

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

Stanford PM, Halliday GM, Brooks WS, Kwok JB, Storey CE, Creasey H, Morris JG, Fulham MJ, Schofield PR.

Brain. 2000 May;123 ( Pt 5):880-93.

PubMed [citation]
PMID:
10775534
See all PubMed Citations (5)

Details of each submission

From Baylor Miraca Genetics Laboratories,, SCV000807502.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing
(GTR000508680.4)
PubMed (5)

Description

This variant has been previously reported as disease-causing and was found once in our laboratory in an 11-year-old female with profound intellectual disability, microcephaly, short stature, elevated lactate, staring episodes

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided
(GTR000508680.4)
not providednot providednot providednot provided

Last Updated: Mar 30, 2019

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