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NC_012920.1:m.8418T>C AND Optic neuropathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 21, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000408923.1

Allele description [Variation Report for NC_012920.1:m.8418T>C]

NC_012920.1:m.8418T>C

Gene:
MT-ATP8:mitochondrially encoded ATP synthase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1:m.8418T>C
HGVS:
  • NC_012920.1:m.8418T>C
  • NC_012920.1:g.8418T>C
Links:
dbSNP: rs1057516062
NCBI 1000 Genomes Browser:
rs1057516062

Condition(s)

Name:
Optic neuropathy
Synonyms:
Optic nerve disorder
Identifiers:
MONDO: MONDO:0002135; MedGen: C3887709; Human Phenotype Ontology: HP:0001138

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000484519Center for Neuroscience and Cell Biology, University of Coimbra, Portugal
no assertion criteria provided
Likely pathogenic
(Nov 21, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.

Bacalhau M, Pratas J, Simões M, Mendes C, Ribeiro C, Santos MJ, Diogo L, Macário MC, Grazina M.

Eur J Med Genet. 2017 Mar;60(3):172-177. doi: 10.1016/j.ejmg.2016.12.009. Epub 2016 Dec 24.

PubMed [citation]
PMID:
28027978

Details of each submission

From Center for Neuroscience and Cell Biology, University of Coimbra, Portugal, SCV000484519.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 28, 2022