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NC_012920.1(MT-ND4):m.11150G>A AND Mitochondrial DNA-Associated Leigh Syndrome and NARP

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:
RCV001800895.1

Allele description [Variation Report for NC_012920.1(MT-ND4):m.11150G>A]

NC_012920.1(MT-ND4):m.11150G>A

Gene:
MT-ND4:mitochondrially encoded NADH dehydrogenase 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ND4):m.11150G>A
HGVS:
NC_012920.1:m.11150G>A
Links:
dbSNP: rs386829118
NCBI 1000 Genomes Browser:
rs386829118

Condition(s)

Name:
Mitochondrial DNA-Associated Leigh Syndrome and NARP
Identifiers:
MedGen: CN043634

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002047449GenomeConnect - CFC International
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 - CFC International, SCV002047449.1

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

Description

Variant interpreted as Uncertain significance and reported on 02-04-2021 by lab or GTR ID Victorian Clinical Genetics Services, Murdoch Children's Research Institute. GenomeConnect - CFC International assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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

Last Updated: May 19, 2024