NM_002693.2(POLG):c.1174C>G (p.Leu392Val) AND Seizures

Clinical significance:Likely benign (Last evaluated: Oct 12, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000720206.1

Allele description [Variation Report for NM_002693.2(POLG):c.1174C>G (p.Leu392Val)]

NM_002693.2(POLG):c.1174C>G (p.Leu392Val)

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.1174C>G (p.Leu392Val)
Other names:
p.L392V:CTG>GTG
HGVS:
  • NC_000015.10:g.89328532G>C
  • NG_008218.2:g.11264C>G
  • NM_002693.2:c.1174C>G
  • NP_002684.1:p.Leu392Val
  • LRG_765t1:c.1174C>G
  • LRG_765:g.11264C>G
  • LRG_765p1:p.Leu392Val
  • NC_000015.9:g.89871763G>C
Protein change:
L392V
Links:
dbSNP: rs145289229
NCBI 1000 Genomes Browser:
rs145289229
Molecular consequence:
  • NM_002693.2:c.1174C>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
SCV000851083Ambry Geneticscriteria provided, single submitter
Likely benign
(Oct 12, 2017)
germlineclinical testing

PubMed (6)
[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

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ.

J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31.

PubMed [citation]
PMID:
21880868

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC.

Hum Mutat. 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824.

PubMed [citation]
PMID:
18546365
PMCID:
PMC2891192
See all PubMed Citations (6)

Details of each submission

From Ambry Genetics, SCV000851083.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Co-occurence with mutation in same gene (phase unknown),Subpopulation frequency in support of benign classification

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

Last Updated: Mar 30, 2019

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