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NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 5, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000987896.2
Variation ID:
987896
Description:
2bp microsatellite
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NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)

Allele ID
975876
Variant type
Microsatellite
Variant length
2 bp
Cytogenetic location
Xp22.12
Genomic location
X: 19359512-19359513 (GRCh38) GRCh38 UCSC
X: 19377630-19377631 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.19377631GA[3]
NC_000023.11:g.19359513GA[3]
NG_016781.1:g.20621GA[3]
... more HGVS
Protein change
I315fs, I346fs, I353fs, I384fs
Other names
-
Canonical SPDI
NC_000023.11:19359512:GAGA:GAGAGA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 11, 2020 RCV001269298.2
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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
308 513

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Allele origin: de novo
Daryl Scott Lab,Baylor College of Medicine
Accession: SCV001448645.1
Submitted: (Nov 12, 2020)
Evidence details
Pathogenic
(Dec 15, 2018)
criteria provided, single submitter
Method: clinical testing
Pyruvate dehydrogenase E1-alpha deficiency
Allele origin: unknown
Baylor Genetics
Accession: SCV001525902.1
Submitted: (Mar 05, 2021)
Evidence details
Comment:
This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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.

Record last updated Oct 08, 2021