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NM_002693.2(POLG):c.2636A>G (p.Gln879Arg)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 16, 2020
Accession:
VCV000206532.3
Variation ID:
206532
Description:
single nucleotide variant
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NM_002693.2(POLG):c.2636A>G (p.Gln879Arg)

Allele ID
202956
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89321223 (GRCh38) GRCh38 UCSC
15: 89864454 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.89321223T>C
NC_000015.9:g.89864454T>C
NM_001126131.2:c.2636A>G NP_001119603.1:p.Gln879Arg missense
... more HGVS
Protein change
Q879R
Other names
p.Q879R:CAG>CGG
Canonical SPDI
NC_000015.10:89321222:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00010
Links
ClinGen: CA316709
dbSNP: rs368587966
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 20, 2017 RCV000188586.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 16, 2020 RCV000758312.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLG - - GRCh38
GRCh37
1276 1392

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 05, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000242208.9
Submitted: (Feb 15, 2017)
Evidence details
Comment:
p.Gln879Arg (CAG>CGG): c.2636 A>G in exon 17 of the POLG gene (NM_002693.2). The Gln879Arg missense change has not been published as a mutation, nor has … (more)
Uncertain significance
(Nov 20, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000858276.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Pathogenic
(Oct 01, 2018)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000886970.1
Submitted: (Nov 16, 2018)
Evidence details
Comment:
The NM_002693.2:c.2636A>G (NP_002684.1:p.Gln879Arg) [GRCH38: NC_000015.10:g.89321223T>C] variant in POLG gene is interpretated to be a Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets the … (more)
Uncertain significance
(Sep 16, 2020)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV001386878.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces glutamine with arginine at codon 879 of the POLG protein (p.Gln879Arg). The glutamine residue is highly conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POLG - - - -

Text-mined citations for rs368587966...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 12, 2021