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NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 21, 2020)
Last evaluated:
Jul 31, 2018
Accession:
VCV000650357.4
Variation ID:
650357
Description:
single nucleotide variant
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NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)

Allele ID
649924
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19355437 (GRCh38) GRCh38 UCSC
X: 19373555 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19373555C>G
NC_000023.11:g.19355437C>G
NG_016781.1:g.16545C>G
... more HGVS
Protein change
T231R, T238R, T269R, T200R
Other names
-
Canonical SPDI
NC_000023.11:19355436:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1272572107
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 31, 2018 RCV000805497.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
(Jul 31, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV000945455.1
Submitted: (Mar 28, 2019)
Comment:
This sequence change replaces threonine with arginine at codon 231 of the PDHA1 protein (p.Thr231Arg). The threonine residue is highly conserved and there is a … (more)
Likely pathogenic
(Feb 09, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
(X-linked inheritance)
Affected status: yes
Allele origin: de novo
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV001149874.1
Submitted: (Jan 21, 2020)
Zygosity: 1 Single Heterozygote
Sex: female
Tissue: blood

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 rs1272572107...

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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