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NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 15, 2017
Accession:
VCV000010883.2
Variation ID:
10883
Description:
single nucleotide variant
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NM_000284.4(PDHA1):c.727T>A (p.Tyr243Asn)

Allele ID
25922
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19355472 (GRCh38) GRCh38 UCSC
X: 19373590 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P08559:p.Tyr243Asn
NC_000023.10:g.19373590T>A
NC_000023.11:g.19355472T>A
... more HGVS
Protein change
Y243N, Y281N, Y212N, Y250N
Other names
-
Canonical SPDI
NC_000023.11:19355471:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA121218
UniProtKB: P08559#VAR_021053
OMIM: 300502.0013
dbSNP: rs137853255
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 15, 2017 RCV000011630.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHA1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
325 531

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Pathogenic
(Aug 15, 2017)
no assertion criteria provided
Method: literature only
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
Affected status: not provided
Allele origin: germline
OMIM
Accession: SCV000031862.3
Submitted: (Dec 30, 2010)
Publications:
PubMed (1)
PubMed: 7692352
Comment on evidence:
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 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
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 Neurology 1993 PMID: 7692352

Text-mined citations for rs137853255...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021