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NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 25, 2018)
Last evaluated:
Sep 22, 2016
Accession:
VCV000495793.1
Variation ID:
495793
Description:
84bp duplication
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NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)

Allele ID
488040
Variant type
Duplication
Variant length
84 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19359529-19359530 (GRCh38) GRCh38 UCSC
X: 19377647-19377648 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19377648_19377731dup
NC_000023.11:g.19359530_19359613dup
NG_016781.1:g.20638_20721dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658684284
dbSNP: rs1555935486
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 22, 2016 RCV000587877.1
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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
320 526

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 22, 2016)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase complex deficiency
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000696480.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The PDHA1 c.1050_1133dup84 (p.Glu351_Arg378dup) variant involves the duplication of a stretch of 84 nucleotides in exon 11. One in silico tool predicts a … (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
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Imbard A Molecular genetics and metabolism 2011 PMID: 21914562

Text-mined citations for rs1555935486...

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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