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G variant in MT-TW gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished).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
ClinVar Genomic variation as it relates to human health
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- 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
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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
consequenceNC_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
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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 |
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 |
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G variant in MT-TW gene is interpreted to be a Unknown Significance variant based on the modified ACMG guidelines (unpublished).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)
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 (less)
|
|
|
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 |
|
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...
HelpThese 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