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NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 18, 2017)
Last evaluated:
Dec 7, 2017
Accession:
VCV000488570.2
Variation ID:
488570
Description:
single nucleotide variant
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NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)

Allele ID
481438
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19354516 (GRCh38) GRCh38 UCSC
X: 19372634 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19372634T>G
NC_000023.11:g.19354516T>G
NG_016781.1:g.15624T>G
... more HGVS
Protein change
L179R, L217R, L186R
Other names
-
Canonical SPDI
NC_000023.11:19354515:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA412393934
dbSNP: rs1555934165
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 7, 2017 RCV000578439.2
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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
Likely pathogenic
(Dec 07, 2017)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
(X-linked inheritance)
Affected status: yes
Allele origin: germline
Institute of Human Genetics, Klinikum rechts der Isar
Accession: SCV000680325.1
Submitted: (Dec 18, 2017)
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 rs1555934165...

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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 24, 2021