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NM_018444.4(PDP1):c.500dup (p.Leu167fs) AND Pyruvate dehydrogenase phosphatase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 27, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001262122.1

Allele description [Variation Report for NM_018444.4(PDP1):c.500dup (p.Leu167fs)]

NM_018444.4(PDP1):c.500dup (p.Leu167fs)

Gene:
PDP1:pyruvate dehydrogenase phosphatase catalytic subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_018444.4(PDP1):c.500dup (p.Leu167fs)
HGVS:
  • NC_000008.11:g.93922559dup
  • NG_012233.1:g.10626dup
  • NM_001161779.2:c.575dup
  • NM_001161780.2:c.575dup
  • NM_001161781.2:c.500dup
  • NM_018444.4:c.500dupMANE SELECT
  • NP_001155251.1:p.Leu192fs
  • NP_001155252.1:p.Leu192fs
  • NP_001155253.1:p.Leu167fs
  • NP_060914.2:p.Leu167fs
  • NC_000008.10:g.94934787dup
Protein change:
L167fs
Links:
OMIM: 605993.0003; dbSNP: rs1810312864
NCBI 1000 Genomes Browser:
rs1810312864
Molecular consequence:
  • NM_001161779.2:c.575dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001161780.2:c.575dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001161781.2:c.500dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_018444.4:c.500dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Pyruvate dehydrogenase phosphatase deficiency (PDHPD)
Synonyms:
Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
Identifiers:
MONDO: MONDO:0012120; MedGen: C1837429; OMIM: 608782

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001439884OMIM
no assertion criteria provided
Pathogenic
(Oct 27, 2020) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT.

JIMD Rep. 2019 Jul;48(1):26-35. doi: 10.1002/jmd2.12054.

PubMed [citation]
PMID:
31392110
PMCID:
PMC6606986

Details of each submission

From OMIM, SCV001439884.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 7-year-old Hispanic boy with pyruvate dehydrogenase phosphatase deficiency (PDHPD; 608782), Bedoyan et al. (2019) identified homozygosity for a 1-bp duplication (c.575dupT) in the PDP1 gene, predicted to cause a frameshift and a premature termination (Leu192PhefsTer5). The mutation, which was found by next-generation sequencing of a panel of 23 genes associated with pyruvate metabolism, was confirmed by Sanger sequencing. The parents were confirmed to be carriers of the mutation. PDP1 protein expression was absent in patient fibroblasts. Both activated and inactivated pyruvate dehydrogenase complex activities were low in patient fibroblasts and lymphocytes, whereas dihydrolipoamide (E3) activity was normal.

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

Last Updated: Apr 23, 2022