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NC_012920.1(MT-ATP6):m.8686T>C AND multiple conditions

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000709918.1

Allele description [Variation Report for NC_012920.1(MT-ATP6):m.8686T>C]

NC_012920.1(MT-ATP6):m.8686T>C

Gene:
MT-ATP6:mitochondrially encoded ATP synthase 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ATP6):m.8686T>C
HGVS:
NC_012920.1:m.8686T>C
Links:
dbSNP: rs1569484231
NCBI 1000 Genomes Browser:
rs1569484231

Condition(s)

Name:
Leber optic atrophy (LHON)
Synonyms:
Optic Atrophy, Hereditary, Leber; Leber hereditary optic neuropathy; Leber's disease; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010788; MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112
Name:
NARP syndrome
Synonyms:
Neuropathy ataxia retinitis pigmentosa syndrome
Identifiers:
MONDO: MONDO:0010794; MedGen: C1328349; Orphanet: 644; OMIM: 551500
Name:
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Identifiers:
MedGen: CN043634

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000840260GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000840260.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: May 19, 2024