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NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 17, 2021)
Last evaluated:
Jul 27, 2020
Accession:
VCV000214964.3
Variation ID:
214964
Description:
single nucleotide variant
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NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)

Allele ID
211529
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p13
Genomic location
11: 34984598 (GRCh38) GRCh38 UCSC
11: 35006145 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.34984598A>G
NC_000011.9:g.35006145A>G
NG_013368.1:g.73469A>G
... more HGVS
Protein change
D351G, D336G, D124G
Other names
p.D351G:GAT>GGT
Canonical SPDI
NC_000011.10:34984597:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA321534
dbSNP: rs200866298
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 13, 2018 RCV000197092.2
Uncertain significance 1 criteria provided, single submitter Jul 27, 2020 RCV001420534.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PDHX - - GRCh38
GRCh37
186 226

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 13, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000252065.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Asp351Gly (GAT>GGT): c.1052 A>G in exon 9 of the PDHX gene (NM_003477.2) A variant of unknown significance has been identified in the PDHX gene. The … (more)
Uncertain significance
(Jul 27, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E3-binding protein deficiency
Allele origin: inherited
New York Genome Center
Study: CSER-NYCKidSeq
Accession: SCV001622837.1
Submitted: (May 17, 2021)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs200866298...

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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 08, 2021