Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NC_012920.1:m.5559A>G

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
2
First in ClinVar:
Mar 24, 2015
Most recent Submission:
Oct 1, 2022
Last evaluated:
Jul 12, 2019
Accession:
VCV000155884.5
Variation ID:
155884
Description:
single nucleotide variant
Help

NC_012920.1:m.5559A>G

Allele ID
165633
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 5559 (GRCh38) GRCh38 UCSC
MT: 5559 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.5559A>G
Protein change
-
Other names
-
Canonical SPDI
NC_012920.1:5558:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA345913
dbSNP: rs1556423008
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 12, 2019 RCV000850796.1
not provided 1 no assertion provided - RCV000144003.5
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MT-TW - - GRCh38 37 37

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Jul 12, 2019)
criteria provided, single submitter
Method: clinical testing
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
Affected status: unknown
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000993029.1
First in ClinVar: Sep 22, 2019
Last updated: Sep 22, 2019
Publications:
PubMed (2)
PubMed: 3196507919349200
Comment:
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G variant in MT-TW gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished).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 … (more)
not provided
(-)
no assertion provided
Method: literature only
Leigh syndrome
Affected status: unknown
Allele origin: germline
GeneReviews
Accession: SCV000188889.5
First in ClinVar: Sep 09, 2014
Last updated: Oct 01, 2022
Publications:

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Interpretation of mitochondrial tRNA variants. Wong LC Genetics in medicine : official journal of the American College of Medical Genetics 2020 PMID: 31965079
Mitochondrial DNA-Associated Leigh Syndrome and NARP. Adam MP - 2017 PMID: 20301352
Mitochondrial DNA-Associated Leigh Syndrome and NARP. Adam MP - 2017 BookShelf: NBK1173
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 Molecular genetics and metabolism 2009 PMID: 19349200

Text-mined citations for rs1556423008...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 11, 2022