NM_002693.2(POLG):c.2890C>T (p.Arg964Cys) AND Seizures

Clinical significance:Likely pathogenic (Last evaluated: May 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000718592.1

Allele description [Variation Report for NM_002693.2(POLG):c.2890C>T (p.Arg964Cys)]

NM_002693.2(POLG):c.2890C>T (p.Arg964Cys)

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.2890C>T (p.Arg964Cys)
Other names:
p.R964C:CGC>TGC
HGVS:
  • NC_000015.10:g.89320857G>A
  • NG_008218.2:g.18939C>T
  • NM_001126131.1:c.2890C>T
  • NM_002693.2:c.2890C>T
  • NP_001119603.1:p.Arg964Cys
  • NP_002684.1:p.Arg964Cys
  • LRG_765t1:c.2890C>T
  • LRG_765:g.18939C>T
  • LRG_765p1:p.Arg964Cys
  • NC_000015.9:g.89864088G>A
Protein change:
R964C
Links:
dbSNP: rs201477273
NCBI 1000 Genomes Browser:
rs201477273
Molecular consequence:
  • NM_002693.2:c.2890C>T - 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
SCV000849456Ambry Geneticscriteria provided, single submitter
Likely pathogenic
(May 2, 2017)
germlineclinical testing

PubMed (4)
[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

Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.

Yamanaka H, Gatanaga H, Kosalaraksa P, Matsuoka-Aizawa S, Takahashi T, Kimura S, Oka S.

J Infect Dis. 2007 May 15;195(10):1419-25. Epub 2007 Apr 4.

PubMed [citation]
PMID:
17436221

R964C mutation of DNA polymerase gamma imparts increased stavudine toxicity by decreasing nucleoside analog discrimination and impairing polymerase activity.

Bailey CM, Kasiviswanathan R, Copeland WC, Anderson KS.

Antimicrob Agents Chemother. 2009 Jun;53(6):2610-2. doi: 10.1128/AAC.01659-08. Epub 2009 Apr 13.

PubMed [citation]
PMID:
19364868
PMCID:
PMC2687208
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV000849456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (4)

Description

Lines of evidence used in support of classification: Detected in individual(s) satisfying established diagnostic criteria for classic disease in trans with a mutation or mutation is homozygous

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

Last Updated: Apr 17, 2019

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