NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs) AND Pyruvate dehydrogenase E1-alpha deficiency

Clinical significance:Pathogenic (Last evaluated: Nov 11, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001269298.2

Allele description [Variation Report for NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)]

NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)

Gene:
PDHA1:pyruvate dehydrogenase E1 subunit alpha 1 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
NM_000284.4(PDHA1):c.1035_1036dup (p.Ile346fs)
HGVS:
  • NC_000023.11:g.19359513GA[3]
  • NG_016781.1:g.20621GA[3]
  • NG_021184.1:g.160746TC[3]
  • NM_000284.4:c.1035_1036dupMANE SELECT
  • NM_001173454.2:c.1149_1150dup
  • NM_001173455.2:c.1056_1057dup
  • NM_001173456.2:c.942_943dup
  • NP_000275.1:p.Ile346fs
  • NP_001166925.1:p.Ile384fs
  • NP_001166926.1:p.Ile353fs
  • NP_001166927.1:p.Ile315fs
  • NC_000023.10:g.19377631GA[3]
  • NM_000284.3:c.1035_1036dupGA
  • NM_000284.4:c.1035_1036dupGAMANE SELECT
Protein change:
I315fs
Links:
Molecular consequence:
  • NM_000284.4:c.1035_1036dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173454.2:c.1149_1150dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173455.2:c.1056_1057dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001173456.2:c.942_943dup - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV001448645Daryl Scott Lab,Baylor College of Medicinecriteria provided, single submitter
Pathogenic
(Nov 11, 2020)
de novoclinical testing

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

SCV001525902Baylor Geneticscriteria provided, single submitter
Pathogenic
(Dec 15, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing
not providedunknownyesnot 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 Daryl Scott Lab,Baylor College of Medicine, SCV001448645.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

From Baylor Genetics, SCV001525902.1

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

Description

This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Oct 7, 2021

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