NC_012920.1:m.5559A>G AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Clinical significance:Uncertain significance (Last evaluated: Jul 12, 2019)
Review status:1 star out of maximum of 4 stars
criteria provided, single submitter

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Based on:: 1 submission [Details]
Record status:: current
Accession:: RCV000850796.1

Allele description [Variation Report for NC_012920.1:m.5559A>G]

NC_012920.1:m.5559A>G

Gene:

MT-TW:mitochondrially encoded tRNA tryptophan [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Genomic location:

Preferred name:

NC_012920.1:m.5559A>G

HGVS:

NC_012920.1:m.5559A>G

Links:

dbSNP: rs1556423008

NCBI 1000 Genomes Browser:

rs1556423008

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000993029	Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	criteria provided, single submitter Modified ACMG Guidelines (Unpublished)	Uncertain significance (Jul 12, 2019)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 19349200, 31965079 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000993029

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

criteria provided, single submitter

Modified ACMG Guidelines (Unpublished)

Uncertain significance
(Jul 12, 2019)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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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

Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome.

Mkaouar-Rebai E, Chamkha I, Kammoun F, Kammoun T, Aloulou H, Hachicha M, Triki C, Fakhfakh F.

Mol Genet Metab. 2009 Jul;97(3):179-84. doi: 10.1016/j.ymgme.2009.03.003. Epub 2009 Mar 16.

PubMed [citation]

PMID:: 19349200

Interpretation of mitochondrial tRNA variants.

Wong LC, Chen T, Wang J, Tang S, Schmitt ES, Landsverk M, Li F, Wang Y, Zhang S, Zhang VW, Craigen WJ.

Genet Med. 2020 May;22(5):917-926. doi: 10.1038/s41436-019-0746-0. Epub 2020 Jan 22. Erratum in: Genet Med. 2020 Mar 5;:. Genet Med. 2020 Apr 9;:.

PubMed [citation]

PMID:: 31965079

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000993029.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

The NC_012920.1:m.5559A>G variant in MT-TW gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes reported in the guidelines: PM9, PP3, PP6

#	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

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