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NM_000284.4(PDHA1):c.868C>T (p.His290Tyr) AND Pyruvate dehydrogenase E1-alpha deficiency

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 4, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001785357.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)]

NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)

Gene:
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)
HGVS:
  • NC_000023.11:g.19357688C>T
  • NG_016781.1:g.18796C>T
  • NM_000284.4:c.868C>TMANE SELECT
  • NM_001173454.2:c.982C>T
  • NM_001173455.2:c.889C>T
  • NM_001173456.2:c.775C>T
  • NP_000275.1:p.His290Tyr
  • NP_001166925.1:p.His328Tyr
  • NP_001166926.1:p.His297Tyr
  • NP_001166927.1:p.His259Tyr
  • NC_000023.10:g.19375806C>T
Protein change:
H259Y
Links:
dbSNP: rs2147184502
NCBI 1000 Genomes Browser:
rs2147184502
Molecular consequence:
  • NM_000284.4:c.868C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173454.2:c.982C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173455.2:c.889C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173456.2:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
Synonyms:
X-linked Leigh syndrome; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; ATAXIA WITH LACTIC ACIDOSIS I; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010717; MedGen: C1839413; OMIM: 312170

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002026370Institute of Human Genetics, University of Leipzig Medical Center
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 4, 2021) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Institute of Human Genetics, University of Leipzig Medical Center, SCV002026370.1

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

Description

This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2_MOD, PM1, PM2_SUP, PP3

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023