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NM_000284.4(PDHA1):c.507G>A (p.Ala169=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jul 6, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000285003.6
Variation ID:
285003
Description:
single nucleotide variant
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NM_000284.4(PDHA1):c.507G>A (p.Ala169=)

Allele ID
269240
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19353170 (GRCh38) GRCh38 UCSC
X: 19371288 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.19353170G>A
NG_016781.1:g.14278G>A
NM_000284.4:c.507G>A MANE Select NP_000275.1:p.Ala169= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:19353169:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00159 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00093
The Genome Aggregation Database (gnomAD), exomes 0.00018
The Genome Aggregation Database (gnomAD) 0.00077
Trans-Omics for Precision Medicine (TOPMed) 0.00078
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00104
The Genome Aggregation Database (gnomAD) 0.00078
1000 Genomes Project 0.00159
Exome Aggregation Consortium (ExAC) 0.00026
Links
ClinGen: CA10363043
dbSNP: rs141862527
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 23, 2020 RCV001088476.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 17, 2019 RCV000725565.5
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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
324 530

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Nov 24, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000337839.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Allele origin: germline
Invitae
Accession: SCV001054808.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 17, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000715890.2
Submitted: (Jul 06, 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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=PDHA1 - - - -

Text-mined citations for rs141862527...

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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 Nov 27, 2021