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NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(2);Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
7 (Most recent: Sep 24, 2021)
Last evaluated:
Jan 22, 2021
Accession:
VCV000206570.6
Variation ID:
206570
Description:
single nucleotide variant
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NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp)

Allele ID
202907
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89317460 (GRCh38) GRCh38 UCSC
15: 89860691 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_500:g.78498G>A
LRG_765:g.22336C>T
LRG_765t1:c.3559C>T LRG_765p1:p.Arg1187Trp
... more HGVS
Protein change
R1187W
Other names
p.R1187W:CGG>TGG
Canonical SPDI
NC_000015.10:89317459:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00008
Exome Aggregation Consortium (ExAC) 0.00110
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00097
Links
ClinGen: CA316784
dbSNP: rs369544574
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jan 22, 2021 RCV000712805.5
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Apr 26, 2016 RCV000188627.7
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 31, 2019 RCV000633564.3
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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
1310 1429

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 14, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000248559.1
Submitted: (Sep 15, 2015)
Evidence details
Likely benign
(Apr 26, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000341678.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Jan 22, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000242250.12
Submitted: (Sep 24, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 26607151, 26341968, 23921535, 16857757, 33469851)
Benign
(May 09, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000843338.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (2)
Uncertain significance
(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: SCV000887302.1
Submitted: (Nov 16, 2018)
Evidence details
Publications
PubMed (1)
Comment:
The NM_002693.2:c.3559C>T (NP_002684.1:p.Arg1187Trp) [GRCH38: NC_000015.10:g.89317460G>A] variant in POLG gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has … (more)
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV000754810.3
Submitted: (Jan 29, 2020)
Evidence details
Likely benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501092.2
Submitted: (Jul 04, 2021)
Evidence details

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
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. Rouzier C European journal of human genetics : EJHG 2014 PMID: 23921535
Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency. Reichenbach J Pediatric research 2006 PMID: 16857757
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=POLG - - - -

Text-mined citations for rs369544574...

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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 Sep 26, 2021