NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) AND Seizures

Clinical significance:Uncertain significance (Last evaluated: Aug 17, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000717211.1

Allele description [Variation Report for NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)]

NM_002693.2(POLG):c.1402A>G (p.Asn468Asp)

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.1402A>G (p.Asn468Asp)
Other names:
p.N468D:AAT>GAT
HGVS:
  • NC_000015.10:g.89327198T>C
  • NG_008218.2:g.12598A>G
  • NM_002693.2:c.1402A>G
  • NP_002684.1:p.Asn468Asp
  • LRG_765t1:c.1402A>G
  • LRG_765:g.12598A>G
  • LRG_765p1:p.Asn468Asp
  • NC_000015.9:g.89870429T>C
  • P54098:p.Asn468Asp
Protein change:
N468D
Links:
UniProtKB: P54098#VAR_023668; dbSNP: rs145843073
NCBI 1000 Genomes Browser:
rs145843073
Molecular consequence:
  • NM_002693.2:c.1402A>G - 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
SCV000848060Ambry Geneticscriteria provided, single submitter
Uncertain significance
(Aug 17, 2016)
germlineclinical testing

PubMed (9)
[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

Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.

Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, Oldfors A, Rautakorpi I, Peltonen L, Majamaa K, Somer H, Suomalainen A.

Lancet. 2004 Sep 4-10;364(9437):875-82.

PubMed [citation]
PMID:
15351195

Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.

Palin EJ, Paetau A, Suomalainen A.

Brain. 2013 Aug;136(Pt 8):2379-92. doi: 10.1093/brain/awt160. Epub 2013 Jun 27.

PubMed [citation]
PMID:
23811324
See all PubMed Citations (9)

Details of each submission

From Ambry Genetics, SCV000848060.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (9)

Description

Lines of evidence used in support of classification: Insufficient evidence

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

Last Updated: Apr 17, 2019

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