NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Likely pathogenic (Last evaluated: Jan 1, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001262561.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)]

NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)

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.1098C>A (p.Tyr366Ter)
HGVS:
  • NC_000023.11:g.19359578C>A
  • NG_016781.1:g.20686C>A
  • NG_021184.1:g.160684G>T
  • NM_000284.4:c.1098C>AMANE SELECT
  • NM_001173454.2:c.1212C>A
  • NM_001173455.2:c.1119C>A
  • NM_001173456.2:c.1005C>A
  • NP_000275.1:p.Tyr366Ter
  • NP_001166925.1:p.Tyr404Ter
  • NP_001166926.1:p.Tyr373Ter
  • NP_001166927.1:p.Tyr335Ter
  • NC_000023.10:g.19377696C>A
  • NM_001173454.1:c.1212C>A
Protein change:
Y335*
Links:
dbSNP: rs2063246734
NCBI 1000 Genomes Browser:
rs2063246734
Molecular consequence:
  • NM_000284.4:c.1098C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173454.2:c.1212C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173455.2:c.1119C>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001173456.2:c.1005C>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV001440482Institute of Human Genetics, University of Leipzig Medical Centercriteria provided, single submitter
Likely pathogenic
(Jan 1, 2019)
de novoclinical testing

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

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, SCV001440482.1

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

Description

This variant was identified as de novo.

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

Last Updated: Nov 27, 2021

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