Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000214937.5
Variation ID:
214937
Description:
single nucleotide variant
Help

NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln)

Allele ID
212020
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19359639 (GRCh38) GRCh38 UCSC
X: 19377757 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19377757A>C
NC_000023.11:g.19359639A>C
NG_016781.1:g.20747A>C
... more HGVS
Protein change
K387Q, K356Q, K425Q, K394Q
Other names
p.K387Q:AAG>CAG
Canonical SPDI
NC_000023.11:19359638:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00053 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00009
The Genome Aggregation Database (gnomAD), exomes 0.00013
1000 Genomes Project 0.00053
Exome Aggregation Consortium (ExAC) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Trans-Omics for Precision Medicine (TOPMed) 0.00013
Links
ClinGen: CA325044
dbSNP: rs201156613
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jun 28, 2017 RCV000200467.4
Likely benign 1 criteria provided, single submitter Nov 26, 2020 RCV001079335.2
Help
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
325 531

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jun 28, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Affected status: yes
Allele origin: germline
GeneDx
Accession: SCV000252035.13
Submitted: (Jan 29, 2019)
Comment:
p.Lys387Gln (AAG>CAG): c.1159 A>C in exon 11 of the PDHA1 gene (NM_000284.3). A variant of unknown significance has been identified in the PDHA1 gene. The … (more)
Likely benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001028363.3
Submitted: (Jan 07, 2021)

Functional evidence

Help
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

Help
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 rs201156613...

Help
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