NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) AND neonatal seizures

Clinical significance:Uncertain significance (Last evaluated: Jun 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:
RCV000678828.1

Allele description [Variation Report for NM_002693.2(POLG):c.2419C>T (p.Arg807Cys)]

NM_002693.2(POLG):c.2419C>T (p.Arg807Cys)

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.2419C>T (p.Arg807Cys)
HGVS:
  • NC_000015.10:g.89322749G>A
  • NG_008218.2:g.17047C>T
  • NM_002693.2:c.2419C>T
  • NP_002684.1:p.Arg807Cys
  • LRG_765t1:c.2419C>T
  • LRG_765:g.17047C>T
  • LRG_765p1:p.Arg807Cys
  • NC_000015.9:g.89865980G>A
  • P54098:p.Arg807Cys
Protein change:
R807C
Links:
UniProtKB: P54098#VAR_058887; dbSNP: rs769827124
NCBI 1000 Genomes Browser:
rs769827124
Molecular consequence:
  • NM_002693.2:c.2419C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
neonatal seizures
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000805014Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospitalcriteria provided, single submitter
Uncertain significance
(Jun 15, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital, SCV000805014.1

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

Description

present with homozygous ALDH7A1 pathogenic variant

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 17, 2019

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