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NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000803732.1
Variation ID:
803732
Description:
5bp duplication
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NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)

Allele ID
792202
Variant type
Duplication
Variant length
5 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19355746-19355747 (GRCh38) GRCh38 UCSC
X: 19373864-19373865 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19373866_19373870dup
NC_000023.11:g.19355748_19355752dup
NG_016781.1:g.16856_16860dup
... more HGVS
Protein change
G245fs, G276fs, G314fs, G283fs
Other names
-
Canonical SPDI
NC_000023.11:19355746:GATCTG:GATCTGATCTG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1602228017
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000990498.1
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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
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Affected status: unknown
Allele origin: unknown
Mendelics
Accession: SCV001141502.1
Submitted: (Oct 22, 2019)

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 rs1602228017...

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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