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NM_002693.2(POLG):c.2663G>A (p.Gly888Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Nov 16, 2018)
Last evaluated:
Oct 1, 2018
Accession:
VCV000239379.1
Variation ID:
239379
Description:
single nucleotide variant
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NM_002693.2(POLG):c.2663G>A (p.Gly888Asp)

Allele ID
242145
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89321196 (GRCh38) GRCh38 UCSC
15: 89864427 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.89321196C>T
NC_000015.9:g.89864427C>T
NM_001126131.2:c.2663G>A NP_001119603.1:p.Gly888Asp missense
... more HGVS
Protein change
G888D
Other names
-
Canonical SPDI
NC_000015.10:89321195:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10583269
dbSNP: rs878854560
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 Oct 1, 2018 RCV000227514.1
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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
Uncertain significance
(Mar 19, 2016)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV000287669.2
Submitted: (Jun 10, 2016)
Evidence details
Comment:
This sequence change replaces glycine with aspartic acid at codon 888 of the POLG protein (p.Gly888Asp). The glycine residue is highly conserved and there is … (more)
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: SCV000886975.1
Submitted: (Nov 16, 2018)
Evidence details
Comment:
The NM_002693.2:c.2663G>A (NP_002684.1:p.Gly888Asp) [GRCH38: NC_000015.10:g.89321196C>T] variant in POLG gene is interpretated to be a Pathogenic based on ACMG guidelines (PMID: 25741868). This variant meets the … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs878854560...

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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 Dec 10, 2020