NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Likely pathogenic (Last evaluated: Dec 7, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000578439.2

Allele description [Variation Report for NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)]

NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)

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.536T>G (p.Leu179Arg)
HGVS:
  • NC_000023.11:g.19354516T>G
  • NG_016781.1:g.15624T>G
  • NM_000284.4:c.536T>GMANE SELECT
  • NM_001173454.2:c.650T>G
  • NM_001173455.2:c.557T>G
  • NM_001173456.2:c.511-833T>G
  • NP_000275.1:p.Leu179Arg
  • NP_001166925.1:p.Leu217Arg
  • NP_001166926.1:p.Leu186Arg
  • NC_000023.10:g.19372634T>G
Protein change:
L179R
Links:
dbSNP: rs1555934165
NCBI 1000 Genomes Browser:
rs1555934165
Molecular consequence:
  • NM_001173456.2:c.511-833T>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000284.4:c.536T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173454.2:c.650T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173455.2:c.557T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000680325Institute of Human Genetics, Klinikum rechts der Isarcriteria provided, single submitter
Likely pathogenic
(Dec 7, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Institute of Human Genetics, Klinikum rechts der Isar, SCV000680325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1bloodnot provided1not providednot providednot provided

Last Updated: Oct 24, 2021

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