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NM_003477.3(PDHX):c.479G>A (p.Arg160His) AND Pyruvate dehydrogenase E3-binding protein deficiency

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000579179.1

Allele description [Variation Report for NM_003477.3(PDHX):c.479G>A (p.Arg160His)]

NM_003477.3(PDHX):c.479G>A (p.Arg160His)

Gene:
PDHX:pyruvate dehydrogenase complex component X [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p13
Genomic location:
Preferred name:
NM_003477.3(PDHX):c.479G>A (p.Arg160His)
HGVS:
  • NC_000011.10:g.34957520G>A
  • NG_013368.1:g.46391G>A
  • NM_001135024.2:c.299G>A
  • NM_001166158.2:c.342+9914G>A
  • NM_003477.3:c.479G>AMANE SELECT
  • NP_001128496.2:p.Arg100His
  • NP_003468.2:p.Arg160His
  • NC_000011.9:g.34979067G>A
  • NM_003477.2:c.479G>A
Protein change:
R100H
Links:
dbSNP: rs747386411
NCBI 1000 Genomes Browser:
rs747386411
Molecular consequence:
  • NM_001166158.2:c.342+9914G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001135024.2:c.299G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003477.3:c.479G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)
Synonyms:
LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX; Lacticacidemia due to PDX1 deficiency; PYRUVATE HYDROGENASE E3-BINDING PROTEIN DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009503; MedGen: C1855553; OMIM: 245349

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000681401GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000681401.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Nov 10, 2024