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NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 13, 2019
Accession:
VCV000619343.4
Variation ID:
619343
Description:
single nucleotide variant
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NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala)

Allele ID
610701
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q26.1
Genomic location
15: 89317405 (GRCh38) GRCh38 UCSC
15: 89860636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.89317405C>G
NC_000015.9:g.89860636C>G
NM_001126131.2:c.3614G>C NP_001119603.1:p.Gly1205Ala missense
... more HGVS
Protein change
G1205A
Other names
-
Canonical SPDI
NC_000015.10:89317404:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs772737979
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 Aug 13, 2019 RCV000758335.3
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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
1309 1427

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
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: SCV000887000.1
Submitted: (Nov 16, 2018)
Evidence details
Publications
PubMed (1)
Comment:
The NM_002693.2:c.3614G>C (NP_002684.1:p.Gly1205Ala) [GRCH38: NC_000015.10:g.89317405C>G] variant in POLG gene is interpretated to be a Likely Pathogenic based on ACMG guidelines (PMID: 25741868). This variant has … (more)
Uncertain significance
(Aug 13, 2019)
criteria provided, single submitter
Method: clinical testing
Progressive sclerosing poliodystrophy
Allele origin: germline
Invitae
Accession: SCV000943534.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with alanine at codon 1205 of the POLG protein (p.Gly1205Ala). The glycine 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
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. Uusimaa J Epilepsia 2013 PMID: 23448099
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Wong LJ Human mutation 2008 PMID: 18546365

Text-mined citations for rs772737979...

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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 Mar 07, 2021