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NM_002693.3(POLG):c.679C>T (p.Arg227Trp) AND Mitochondrial DNA depletion syndrome 4b

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 24, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000014469.19

Allele description [Variation Report for NM_002693.3(POLG):c.679C>T (p.Arg227Trp)]

NM_002693.3(POLG):c.679C>T (p.Arg227Trp)

Genes:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
POLGARF:POLG alternative reading frame [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.679C>T (p.Arg227Trp)
HGVS:
  • NC_000015.10:g.89330257G>A
  • NG_008218.2:g.9539C>T
  • NM_001126131.2:c.679C>T
  • NM_002693.3:c.679C>TMANE SELECT
  • NP_001119603.1:p.Arg227Trp
  • NP_002684.1:p.Arg227Trp
  • NP_002684.1:p.Arg227Trp
  • LRG_765t1:c.679C>T
  • LRG_765:g.9539C>T
  • LRG_765p1:p.Arg227Trp
  • NC_000015.9:g.89873488G>A
  • NM_002693.2:c.679C>T
  • P54098:p.Arg227Trp
Protein change:
R227W; ARG227TRP
Links:
UniProtKB: P54098#VAR_023663; OMIM: 174763.0021; dbSNP: rs121918056
NCBI 1000 Genomes Browser:
rs121918056
Molecular consequence:
  • NM_001126131.2:c.679C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.679C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 4b
Synonyms:
MNGIE, POLG-RELATED; Mitochondrial Neurogastrointestinal Encephalopathy Disease, POLG-Related; Mitochondrial DNA depletion syndrome 4B, MNGIE type
Identifiers:
MONDO: MONDO:0013350; MedGen: C3150914; Orphanet: 298; OMIM: 613662

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034720OMIM
no assertion criteria provided
Pathogenic
(Mar 24, 2009) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.

Giordano C, Powell H, Leopizzi M, De Curtis M, Travaglini C, Sebastiani M, Gallo P, Taylor RW, d'Amati G.

Neurology. 2009 Mar 24;72(12):1103-5. doi: 10.1212/01.wnl.0000345002.47396.e1. No abstract available. Erratum in: Neurology. 2009 Sep 1;73(9):738. de Curtis, M [corrected to De Curtis, M].

PubMed [citation]
PMID:
19307547
PMCID:
PMC2821839

Details of each submission

From OMIM, SCV000034720.3

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

Description

For discussion of the arg227-to-trp (R227W) mutation in the POLG gene that was found in compound heterozygous state in an infant with mtDNA depletion syndrome-4B (MTDPS4B; 613662) by Giordano et al. (2009), see 174763.0006.

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

Last Updated: Sep 29, 2024