NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) AND Mitochondrial DNA depletion syndrome 1 (MNGIE type)

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000020473.1

Allele description [Variation Report for NM_002693.2(POLG):c.1760C>T (p.Pro587Leu)]

NM_002693.2(POLG):c.1760C>T (p.Pro587Leu)

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.1760C>T (p.Pro587Leu)
HGVS:
  • NC_000015.10:g.89325639G>A
  • NG_008218.2:g.14157C>T
  • NM_001126131.1:c.1760C>T
  • NM_002693.2:c.1760C>T
  • NP_001119603.1:p.Pro587Leu
  • NP_002684.1:p.Pro587Leu
  • LRG_765t1:c.1760C>T
  • LRG_765:g.14157C>T
  • LRG_765p1:p.Pro587Leu
  • NC_000015.9:g.89868870G>A
  • NG_008218.1:g.14157C>T
  • P54098:p.Pro587Leu
Protein change:
P587L; PRO587LEU
Links:
UniProtKB: P54098#VAR_023671; OMIM: 174763.0011; dbSNP: rs113994096
NCBI 1000 Genomes Browser:
rs113994096
Molecular consequence:
  • NM_002693.2:c.1760C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 1 (MNGIE type) (MTDPS1)
Synonyms:
POLIP SYNDROME; POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION; MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, TYMP-RELATED; See all synonyms [MedGen]
Identifiers:
MedGen: C4551995; Orphanet: 298; OMIM: 603041

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000040907GeneReviewsno assertion criteria providedpathologic
(Oct 11, 2012)
not providedcuration

SCV000746435Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Dec 3, 2017)
inheritedclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedunknownnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot providednot providednot providedcuration

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 GeneReviews, SCV000040907.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000746435.1

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

Last Updated: Mar 30, 2019

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