NM_002693.3(POLG):c.2021G>A (p.Gly674Asp) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Dec 15, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720525.1

Allele description [Variation Report for NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)]

NM_002693.3(POLG):c.2021G>A (p.Gly674Asp)

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.2021G>A (p.Gly674Asp)
Other names:
p.G674D:GGC>GAC
HGVS:
  • NC_000015.10:g.89324156C>T
  • NG_008218.2:g.15640G>A
  • NM_001126131.2:c.2021G>A
  • NM_002693.2:c.2021G>A
  • NM_002693.3:c.2021G>AMANE SELECT
  • NP_001119603.1:p.Gly674Asp
  • NP_002684.1:p.Gly674Asp
  • NP_002684.1:p.Gly674Asp
  • LRG_765t1:c.2021G>A
  • LRG_765:g.15640G>A
  • LRG_765p1:p.Gly674Asp
  • NC_000015.9:g.89867387C>T
Protein change:
G674D
Links:
dbSNP: rs200257554
NCBI 1000 Genomes Browser:
rs200257554
Molecular consequence:
  • NM_001126131.2:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.2:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002693.3:c.2021G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000851403Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 15, 2017)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

A case of mitochondrial cytopathy with exertion induced dystonia.

Chandra SR, Issac TG.

J Pediatr Neurosci. 2015 Jul-Sep;10(3):254-7. doi: 10.4103/1817-1745.165683.

PubMed [citation]
PMID:
26557169
PMCID:
PMC4611897

Details of each submission

From Ambry Genetics, SCV000851403.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

The p.G674D variant (also known as c.2021G>A), located in coding exon 10 of the POLG gene, results from a G to A substitution at nucleotide position 2021. The glycine at codon 674 is replaced by aspartic acid, an amino acid with similar properties. This alteration was detected in an individual with paroxysmal exertion induced dystonia (PED) and early onset exertion induced dystonia in conjunction with a second POLG alteration of unknown significance (c.3644-­27T>G). The p.G674D alteration was also detected in the individual's father. Both the proband and his father also carried the SURF1 c.237G>T alteration which authors considered to be pathogenic; therefore, it is unknown which alteration(s) is causative (Chandra SR et al. J Pediatr Neurosci;10:254-7). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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