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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000188666.3

Allele description

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)
Other names:
p.P587L:CCG>CTG
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
  • 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
GMAF:
0.0008(A), 113994096
NCBI 1000 Genomes Browser:
rs113994096
Allele Frequency:
0.00170(A), GO-ESP
Molecular consequence:
  • NM_002693.2:c.1760C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000242289GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(Jun 1, 2016) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242289.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The P587L missense variant in the POLG gene typically occurs on the same chromosome (in cis) with another POLG missense variant and account for approximately 6% of disease-causing alleles in this gene (Tang et al., 2011). Individuals who have these two variants in cis with a disease causing variant on the other allele have been reported with Alpers syndrome, autosomal recessive progressive external opthalmoplegia (arPEO), and other POLG-related disorders causing epilepsy, neuropathy, and/or hepatopathy (Tang et al., 2011; Blok et al., 2009). Both variants were observed with a frequency of 0.33% (29/8598 alleles) in individuals of European ancestry in the NHLBI Exome Sequencing Project.

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

Last Updated: Feb 26, 2017