NM_002693.2(POLG):c.803G>C (p.Gly268Ala) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Dec 20, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000715855.1

Allele description [Variation Report for NM_002693.2(POLG):c.803G>C (p.Gly268Ala)]

NM_002693.2(POLG):c.803G>C (p.Gly268Ala)

Gene:
POLG:DNA polymerase gamma, catalytic subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_002693.2(POLG):c.803G>C (p.Gly268Ala)
Other names:
p.G268A:GGG>GCG
HGVS:
  • NC_000015.10:g.89330133C>G
  • NG_008218.2:g.9663G>C
  • NM_002693.2:c.803G>C
  • NP_002684.1:p.Gly268Ala
  • LRG_765t1:c.803G>C
  • LRG_765:g.9663G>C
  • LRG_765p1:p.Gly268Ala
  • NC_000015.9:g.89873364C>G
  • P54098:p.Gly268Ala
Protein change:
G268A
Links:
UniProtKB: P54098#VAR_058873; dbSNP: rs61752784
NCBI 1000 Genomes Browser:
rs61752784
Molecular consequence:
  • NM_002693.2:c.803G>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Seizures
Synonyms:
Seizure; Epilepsy
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
SCV000846687Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Dec 20, 2017)
germlineclinical testing

PubMed (14)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.

Di Fonzo A, Bordoni A, Crimi M, Sara G, Del Bo R, Bresolin N, Comi GP.

Hum Mutat. 2003 Dec;22(6):498-9.

PubMed [citation]
PMID:
14635118

Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain.

Del Bo R, Bordoni A, Sciacco M, Di Fonzo A, Galbiati S, Crimi M, Bresolin N, Comi GP.

Neurology. 2003 Oct 14;61(7):903-8.

PubMed [citation]
PMID:
14557557
See all PubMed Citations (14)

Details of each submission

From Ambry Genetics, SCV000846687.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (14)

Description

Lines of evidence used in support of classification: Conflicting evidence

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

Last Updated: Apr 17, 2019

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