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NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 17, 2024
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:
RCV004073343.1

Allele description [Variation Report for NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)]

NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)

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.133C>T (p.Arg45Trp)
HGVS:
  • NC_000023.11:g.19349952C>T
  • NG_016781.1:g.11060C>T
  • NM_000284.3:c.133C>T
  • NM_000284.4:c.133C>TMANE SELECT
  • NM_001173454.2:c.247C>T
  • NM_001173455.2:c.133C>T
  • NM_001173456.2:c.133C>T
  • NP_000275.1:p.Arg45Trp
  • NP_001166925.1:p.Arg83Trp
  • NP_001166926.1:p.Arg45Trp
  • NP_001166927.1:p.Arg45Trp
  • NC_000023.10:g.19368070C>T
Protein change:
R45W
Molecular consequence:
  • NM_000284.4:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173454.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173455.2:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173456.2:c.133C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005003718Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 17, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV005003718.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.133C>T (p.R45W) alteration is located in exon 3 (coding exon 3) of the PDHA1 gene. This alteration results from a C to T substitution at nucleotide position 133, causing the arginine (R) at amino acid position 45 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024