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NM_002693.3(POLG):c.1550G>T (p.Gly517Val) AND POLG-Related Spectrum Disorders

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001117969.12

Allele description [Variation Report for NM_002693.3(POLG):c.1550G>T (p.Gly517Val)]

NM_002693.3(POLG):c.1550G>T (p.Gly517Val)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
Other names:
p.G517V:GGG>GTG
HGVS:
  • NC_000015.10:g.89326947C>A
  • NG_008218.2:g.12849G>T
  • NM_001126131.2:c.1550G>T
  • NM_002693.3:c.1550G>TMANE SELECT
  • NP_001119603.1:p.Gly517Val
  • NP_002684.1:p.Gly517Val
  • LRG_765t1:c.1550G>T
  • LRG_765:g.12849G>T
  • LRG_765p1:p.Gly517Val
  • NC_000015.9:g.89870178C>A
  • NM_001126131.1:c.1550G>T
  • NM_002693.2:c.1550G>T
  • P54098:p.Gly517Val
Protein change:
G517V
Links:
UniProtKB: P54098#VAR_058879; dbSNP: rs61752783
NCBI 1000 Genomes Browser:
rs61752783
Molecular consequence:
  • NM_001126131.2:c.1550G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.1550G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
POLG-Related Spectrum Disorders
Identifiers:
MedGen: C4763519

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001276215Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Biochemical analysis of the G517V POLG variant reveals wild-type like activity.

Kasiviswanathan R, Copeland WC.

Mitochondrion. 2011 Nov;11(6):929-34. doi: 10.1016/j.mito.2011.08.003. Epub 2011 Aug 11.

PubMed [citation]
PMID:
21856450
PMCID:
PMC3206148

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, et al.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PubMed [citation]
PMID:
16621917

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001276215.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jan 26, 2025