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NM_000284.4(PDHA1):c.984T>C (p.Asn328=)

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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:
Sep 20, 2020
Accession:
VCV000211893.6
Variation ID:
211893
Description:
single nucleotide variant
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NM_000284.4(PDHA1):c.984T>C (p.Asn328=)

Allele ID
208994
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19359000 (GRCh38) GRCh38 UCSC
X: 19377118 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.19359000T>C
NG_016781.1:g.20108T>C
NG_021184.1:g.161262A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:19358999:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD) 0.00005
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA208258
dbSNP: rs767503319
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 Dec 23, 2014 RCV000194225.3
Likely benign 1 criteria provided, single submitter Sep 20, 2020 RCV000899471.3
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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
325 531

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Dec 23, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Affected status: unknown
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000248505.1
Submitted: (Sep 15, 2015)
Likely benign
(Sep 20, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001043742.3
Submitted: (Jan 07, 2021)

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 rs767503319...

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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 Jan 12, 2022