NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) AND Cerebellar ataxia infantile with progressive external ophthalmoplegia

Clinical significance:Pathogenic (Last evaluated: May 1, 2006)

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:
RCV000014466.27

Allele description [Variation Report for NM_002693.2(POLG):c.2557C>T (p.Arg853Trp)]

NM_002693.2(POLG):c.2557C>T (p.Arg853Trp)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.2557C>T (p.Arg853Trp)
HGVS:
  • NC_000015.10:g.89321777G>A
  • NG_008218.2:g.18019C>T
  • NM_002693.2:c.2557C>T
  • NP_002684.1:p.Arg853Trp
  • LRG_765t1:c.2557C>T
  • LRG_765:g.18019C>T
  • LRG_765p1:p.Arg853Trp
  • NC_000015.9:g.89865008G>A
  • NG_008218.1:g.18019C>T
  • P54098:p.Arg853Trp
Protein change:
R853W; ARG853TRP
Links:
UniProtKB: P54098#VAR_058889; OMIM: 174763.0018; dbSNP: rs121918053
NCBI 1000 Genomes Browser:
rs121918053
Molecular consequence:
  • NM_002693.2:c.2557C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cerebellar ataxia infantile with progressive external ophthalmoplegia (PEOB1)
Synonyms:
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1; Autosomal Recessive Progressive External Ophthalmoplegia
Identifiers:
MedGen: C4225153; Orphanet: 254886; OMIM: 258450

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000034717OMIMno assertion criteria providedPathogenic
(May 1, 2006)
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

Early-onset familial parkinsonism due to POLG mutations.

Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, Hirano M, DiMauro S.

Ann Neurol. 2006 May;59(5):859-62.

PubMed [citation]
PMID:
16634032

Details of each submission

From OMIM, SCV000034717.3

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

Description

In 2 Italian sisters with early-onset parkinsonism, peripheral sensory neuropathy, and mitochondrial DNA deletions but without PEO (PEOB1; 258450), Davidzon et al. (2006) identified compound heterozygosity for 2 mutations in the POLG gene: a 2839C-T transition in exon 16 resulting in an arg853-to-trp (R853W) substitution and a 2491G-C transversion in exon 13 resulting in a gly737-to-arg (G737R; 174763.0019) substitution. The R853W and G737R substitutions occurred in the polymerase domain and the linker region, respectively. Each unaffected parent was heterozygous for 1 of the mutations. Despite the absence of PEO, the phenotype was most consistent with the clinical features of that disorder.

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

Last Updated: Mar 30, 2019

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