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NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 3, 2021)
Last evaluated:
Sep 17, 2020
Accession:
VCV000576551.5
Variation ID:
576551
Description:
single nucleotide variant
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NM_002693.2(POLG):c.1790G>A (p.Arg597Gln)

Allele ID
567330
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89325609 (GRCh38) GRCh38 UCSC
15: 89868840 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.89325609C>T
NC_000015.9:g.89868840C>T
NM_001126131.2:c.1790G>A NP_001119603.1:p.Arg597Gln missense
... more HGVS
Protein change
R597Q
Other names
-
Canonical SPDI
NC_000015.10:89325608:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Trans-Omics for Precision Medicine (TOPMed) 0.00010
Links
dbSNP: rs1001570418
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter May 7, 2020 RCV001546774.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Sep 17, 2020 RCV000699074.4
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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
1309 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000887148.1
Submitted: (Nov 16, 2018)
Evidence details
Comment:
The NM_002693.2:c.1790G>A (NP_002684.1:p.Arg597Gln) [GRCH38: NC_000015.10:g.89325609C>T] variant in POLG gene is interpretated to be a Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets the … (more)
Uncertain significance
(Sep 17, 2020)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV000827769.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces arginine with glutamine at codon 597 of the POLG protein (p.Arg597Gln). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(May 07, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001766355.1
Submitted: (Aug 03, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. Saneto RP Seizure 2010 PMID: 20138553
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. Stewart JD Journal of medical genetics 2009 PMID: 19251978

Text-mined citations for rs1001570418...

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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 Aug 17, 2021