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NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn)

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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:
VCV000010884.1
Variation ID:
10884
Description:
single nucleotide variant
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NM_000284.3(PDHA1):c.943G>A (p.Asp315Asn)

Allele ID
25923
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19358959 (GRCh38) GRCh38 UCSC
X: 19377077 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.19358959G>A
NC_000023.10:g.19377077G>A
NM_000284.3:c.943G>A NP_000275.1:p.Asp315Asn missense
... more HGVS
Protein change
D315N
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: P08559#VAR_021056
OMIM: 300502.0014
dbSNP: rs137853256
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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 RCV000011631.7
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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
131 283

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 15, 2017)
no assertion criteria provided
Method: literature only
PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000031863.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

Citations for this variant

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

Record last updated Jun 17, 2019