NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Pathogenic (Last evaluated: Aug 15, 2017)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000011630.3

Allele description [Variation Report for NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn)]

NM_000284.3(PDHA1):c.727T>A (p.Tyr243Asn)

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.727T>A (p.Tyr243Asn)
HGVS:
  • NC_000023.11:g.19355472T>A
  • NG_016781.1:g.16580T>A
  • NM_000284.3:c.727T>A
  • NP_000275.1:p.Tyr243Asn
  • NC_000023.10:g.19373590T>A
  • P08559:p.Tyr243Asn
Protein change:
Y243N; TYR243ASN
Links:
UniProtKB: P08559#VAR_021053; OMIM: 300502.0013; dbSNP: rs137853255
NCBI 1000 Genomes Browser:
rs137853255
Molecular consequence:
  • NM_000284.3:c.727T>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
SCV000031862OMIMno assertion criteria providedPathogenic
(Aug 15, 2017)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.

Matthews PM, Brown RM, Otero L, Marchington D, Leonard JV, Brown GK.

Neurology. 1993 Oct;43(10):2025-30.

PubMed [citation]
PMID:
7692352

Details of each submission

From OMIM, SCV000031862.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male patient with decreased pyruvate dehydrogenase activity and decreased immunoreactive E1-alpha protein in cultured fibroblasts (PDHAD; 312170), Matthews et al. (1994) identified an 832T-A transversion in exon 7 of the PDHA1 gene, resulting in a tyr243-to-asn (Y243N) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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