NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup) AND Pyruvate dehydrogenase complex deficiency

Clinical significance:Likely pathogenic (Last evaluated: Sep 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000587877.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)]

NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)

Gene:
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
HGVS:
  • NC_000023.11:g.19359530_19359613dup
  • NG_016781.1:g.20638_20721dup
  • NG_021184.1:g.160649_160732dup
  • NM_000284.4:c.1050_1133dupMANE SELECT
  • NM_001173454.2:c.1164_1247dup
  • NM_001173455.2:c.1071_1154dup
  • NM_001173456.2:c.957_1040dup
  • NP_000275.1:p.Gln351_Arg378dup
  • NP_001166925.1:p.Gln389_Arg416dup
  • NP_001166926.1:p.Gln358_Arg385dup
  • NP_001166927.1:p.Gln320_Arg347dup
  • NC_000023.10:g.19377648_19377731dup
Links:
dbSNP: rs1555935486
NCBI 1000 Genomes Browser:
rs1555935486
Molecular consequence:
  • NM_000284.4:c.1050_1133dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001173454.2:c.1164_1247dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001173455.2:c.1071_1154dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001173456.2:c.957_1040dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:
Pyruvate dehydrogenase complex deficiency (PDHC)
Synonyms:
PDH DEFICIENCY; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate decarboxylase deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0019169; MedGen: C0034345; Orphanet: 765; Orphanet: 79243; OMIM: PS312170

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000696480Women's Health and Genetics/Laboratory Corporation of America, LabCorpcriteria provided, single submitter
Likely pathogenic
(Sep 22, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

LabCorp Variant Classification Summary - May 2015.docx

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M.

Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18.

PubMed [citation]
PMID:
21914562

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000696480.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: The PDHA1 c.1050_1133dup84 (p.Glu351_Arg378dup) variant involves the duplication of a stretch of 84 nucleotides in exon 11. One in silico tool predicts a benign outcome for this variant. The information on allele frequency of this variant in population databases is not available due to the ExAC and ESP do not cover duplication variants of this size. This variant has been reported in two male patients with PDHc deficiency and absent in 100 tested control chromosomes. Taken together, this variant is classified as likely pathogenic until more evidence becomes available.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 24, 2021

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