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NC_012920.1(MT-TL2):m.12299A>C AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

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:
RCV003334347.1

Allele description [Variation Report for NC_012920.1(MT-TL2):m.12299A>C]

NC_012920.1(MT-TL2):m.12299A>C

Gene:
MT-TL2:mitochondrially encoded tRNA leucine 2 (CUN) [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-TL2):m.12299A>C
HGVS:
NC_012920.1:m.12299A>C

Condition(s)

Name:
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke (MELAS)
Synonyms:
Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes; MELAS syndrome
Identifiers:
MONDO: MONDO:0010789; MedGen: C0162671; Orphanet: 550; OMIM: 540000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004042624GeneReviews
no classification provided
not providedmaternalliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case report.

Abu-Amero KK, Al-Dhalaan H, Bohlega S, Hellani A, Taylor RW.

J Med Case Rep. 2009 Oct 15;3:77. doi: 10.1186/1752-1947-3-77.

PubMed [citation]
PMID:
19946553
PMCID:
PMC2783076

Details of each submission

From GeneReviews, SCV004042624.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 21, 2023