m.3242G>A AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: May 4, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000850687.2

Allele description [Variation Report for m.3242G>A]

m.3242G>A

Gene:

MT-TL1:mitochondrially encoded tRNA leucine 1 (UUA/G) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

m.3242G>A

HGVS:

NC_012920.1:m.3242G>A
NC_012920.1:g.3242G>A

Nucleotide change:

3242G-A

Links:

OMIM: 590050.0012; dbSNP: rs193303018

NCBI 1000 Genomes Browser:

rs193303018

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000992918	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter (Modified ACMG Guidelines (Unpublished))	Likely pathogenic (Jul 12, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 15870203, 19460299, 22781753, 31965079 Citation Link,
SCV002517704	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000992918

Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))

Likely pathogenic
(Jul 12, 2019)

germline

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV002517704

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease.

Kirino Y, Goto Y, Campos Y, Arenas J, Suzuki T.

Proc Natl Acad Sci U S A. 2005 May 17;102(20):7127-32. Epub 2005 May 3.

PubMed [citation]

PMID:: 15870203
PMCID:: PMC1129107

Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders.

Mimaki M, Hatakeyama H, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nishino I, Nonaka I, Goto Y.

Mitochondrion. 2009 Apr;9(2):115-22. doi: 10.1016/j.mito.2009.01.005. Epub 2009 Jan 21.

PubMed [citation]

PMID:: 19460299

See all PubMed Citations (4)

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000992918.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

The NC_012920.1:m.3242G>A variant in MT-TL1 gene is interpreted to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PS5, PM9, PM10

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV002517704.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 11, 2022

ClinVar

Relating variation to medicine