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NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Dec 1, 1997
Accession:
VCV000002112.1
Variation ID:
2112
Description:
59bp deletion
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NM_003477.3(PDHX):c.965_1023del (p.Asp322fs)

Allele ID
17151
Variant type
Deletion
Variant length
59 bp
Cytogenetic location
11p13
Genomic location
11: 34978124-34978182 (GRCh38) GRCh38 UCSC
11: 34999671-34999729 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.34978124_34978182del
NC_000011.9:g.34999671_34999729del
NG_013368.1:g.66995_67053del
... more HGVS
Protein change
D322fs, D262fs
Other names
-
Canonical SPDI
-
Functional consequence
effect on RNA splicing [Variation Ontology VariO:0362]
Loss of exon 8 in gene PDHX caused by unknown genomic change. [curated by NCBI staff]
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA115351
OMIM: 608769.0002
dbSNP: rs1554989996
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 Dec 1, 1997 RCV000002193.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHX - - GRCh38
GRCh37
188 228

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 01, 1997)
no assertion criteria provided
Method: literature only
PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000022351.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)

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
Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. Aral B American journal of human genetics 1997 PMID: 9399911
Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy. Marsac C The Journal of pediatrics 1993 PMID: 8229524

Text-mined citations for rs1554989996...

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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