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NM_002693.2(POLG):c.1763G>A (p.Gly588Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Nov 16, 2018)
Last evaluated:
Oct 1, 2018
Accession:
VCV000372694.1
Variation ID:
372694
Description:
single nucleotide variant
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NM_002693.2(POLG):c.1763G>A (p.Gly588Asp)

Allele ID
360118
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89325636 (GRCh38) GRCh38 UCSC
15: 89868867 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.89325636C>T
NC_000015.9:g.89868867C>T
NM_001126131.2:c.1763G>A NP_001119603.1:p.Gly588Asp missense
... more HGVS
Protein change
G588D
Other names
-
Canonical SPDI
NC_000015.10:89325635:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA10602201
dbSNP: rs371334941
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 Jan 10, 2017 RCV000413337.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Oct 1, 2018 RCV000557537.1
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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
Likely pathogenic
(Dec 29, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000491091.1
Submitted: (Dec 21, 2016)
Evidence details
Comment:
The G588D variant in the POLG gene has been reported as a likely pathogenic variant in three unrelated individuals with clinical presentations suggestive of POLG … (more)
Uncertain significance
(Apr 05, 2017)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV000630112.1
Submitted: (Oct 05, 2017)
Evidence details
Comment:
This sequence change replaces glycine with aspartic acid at codon 588 of the POLG protein (p.Gly588Asp). The glycine residue is highly conserved and there is … (more)
Uncertain significance
(Jan 10, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705195.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely 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: SCV000887146.1
Submitted: (Nov 16, 2018)
Evidence details
Comment:
The NM_002693.2:c.1763G>A (NP_002684.1:p.Gly588Asp) [GRCH38: NC_000015.10:g.89325636C>T] variant in POLG gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets … (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 rs371334941...

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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 Feb 27, 2021