NM_001040716.1(PC):c.1748G>T (p.Arg583Leu) AND Pyruvate carboxylase deficiency

Clinical significance:Pathogenic (Last evaluated: May 1, 2009)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000002182.4

Allele description [Variation Report for NM_001040716.1(PC):c.1748G>T (p.Arg583Leu)]

NM_001040716.1(PC):c.1748G>T (p.Arg583Leu)

Gene:
PC:pyruvate carboxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_001040716.1(PC):c.1748G>T (p.Arg583Leu)
HGVS:
  • NC_000011.10:g.66852516C>A
  • NG_008319.1:g.110861G>T
  • NM_001040716.1:c.1748G>T
  • NP_001035806.1:p.Arg583Leu
  • NC_000011.9:g.66619987C>A
  • P11498:p.Arg583Leu
Protein change:
R583L; ARG583LEU
Links:
UniProtKB: P11498#VAR_058960; OMIM: 608786.0008; dbSNP: rs119103242
NCBI 1000 Genomes Browser:
rs119103242
Molecular consequence:
  • NM_001040716.1:c.1748G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pyruvate carboxylase deficiency
Synonyms:
ATAXIA WITH LACTIC ACIDOSIS II; Pyruvate Carboxylase Deficiency Disease
Identifiers:
MedGen: C0034341; Orphanet: 3008; OMIM: 266150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000022340OMIMno assertion criteria providedPathogenic
(May 1, 2009)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Monnot S, Serre V, Chadefaux-Vekemans B, Aupetit J, Romano S, De Lonlay P, Rival JM, Munnich A, Steffann J, Bonnefont JP.

Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

PubMed [citation]
PMID:
19306334

Details of each submission

From OMIM, SCV000022340.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with type B pyruvate carboxylase deficiency (266150), Monnot et al. (2009) identified compound heterozygosity for 2 mutations in the PC gene: a 1748G-T transversion in exon 12, resulting in an arg583-to-leu (R583L) substitution in the carboxytransferase domain, and a 1-bp duplication in exon 17 (2876dupT; 608786.0009), resulting in a frameshift, nonsense-mediated mRNA decay, and no functional protein. The R583L mutation had no detectable effect on mRNA size or amount. Monnot et al. (2009) commented that patients with the relatively more severe type B tend to have at least 1 truncating mutation in the PC gene.

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

Last Updated: Mar 30, 2019

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