NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 9, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000732287.2

Allele description [Variation Report for NM_002693.2(POLG):c.2085T>G (p.Asp695Glu)]

NM_002693.2(POLG):c.2085T>G (p.Asp695Glu)

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.2085T>G (p.Asp695Glu)
Other names:
p.D695E:GAT>GAG
HGVS:
  • NC_000015.10:g.89323887A>C
  • NG_008218.2:g.15909T>G
  • NM_002693.2:c.2085T>G
  • NP_002684.1:p.Asp695Glu
  • LRG_765t1:c.2085T>G
  • LRG_765:g.15909T>G
  • LRG_765p1:p.Asp695Glu
  • NC_000015.9:g.89867118A>C
Protein change:
D695E
Links:
dbSNP: rs776848222
NCBI 1000 Genomes Browser:
rs776848222
Molecular consequence:
  • NM_002693.2:c.2085T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000242180GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 11, 2017)
germlineclinical testing

Citation Link,

SCV000860220EGL Genetic Diagnostics,Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Mar 9, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000242180.10

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

Description

The D695E variant in the POLG gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The D695E variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D695E variant is a conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret D695E as a variant of uncertain significance.

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000860220.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 17, 2019

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