NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(2);Pathogenic(2);Uncertain significance(1) (Last evaluated: Apr 6, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000427845.4

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]
Observations:
21

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000331603EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Pathogenic
(Oct 5, 2017)
germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000511317Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinicscriteria provided, single submitter
Pathogenic
(Aug 26, 2016)
germlineclinical testing

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

SCV000614707Athena Diagnostics Inccriteria provided, single submitter
Uncertain significance
(Jun 17, 2016)
germlineclinical testing

PubMed (8)
[See all records that cite these PMIDs]

SCV000802089Mayo Clinic Genetic Testing Laboratories,Mayo Clinicno assertion criteria providedLikely pathogenic
(Mar 8, 2016)
unknownclinical testing

SCV000884404ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Likely pathogenic
(Apr 6, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown21not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.

Filosto M, Mancuso M, Nishigaki Y, Pancrudo J, Harati Y, Gooch C, Mankodi A, Bayne L, Bonilla E, Shanske S, Hirano M, DiMauro S.

Arch Neurol. 2003 Sep;60(9):1279-84.

PubMed [citation]
PMID:
12975295

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
See all PubMed Citations (10)

Details of each submission

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000331603.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided21not providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided21not providednot providednot provided

From Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics, SCV000511317.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot provided0.002865not providednot provided

From Athena Diagnostics Inc, SCV000614707.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (8)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Mayo Clinic Genetic Testing Laboratories,Mayo Clinic, SCV000802089.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000884404.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2019

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