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m.5549G>A AND Mitochondrial encephalopathy

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Mar 1, 1995
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV000010163.2

Allele description [Variation Report for m.5549G>A]

m.5549G>A

Gene:
MT-TW:mitochondrially encoded tRNA tryptophan [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.5549G>A
HGVS:
NC_012920.1:m.5549G>A
Nucleotide change:
5549G-A
Links:
OMIM: 590095.0001; dbSNP: rs199474671
NCBI 1000 Genomes Browser:
rs199474671

Condition(s)

Name:
Mitochondrial encephalopathy
Identifiers:
MedGen: C1852373; Human Phenotype Ontology: HP:0006789

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000030384OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 1995) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study.

Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE.

Ann Neurol. 1995 Mar;37(3):400-3.

PubMed [citation]
PMID:
7695240

Details of each submission

From OMIM, SCV000030384.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with adult-onset dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy, Nelson et al. (1995) identified a heteroplasmic 5549G-A transition in the MTTW gene. The mutation had a widespread distribution in autopsy tissues. Postmortem examination showed diffuse neuronal loss and gliosis throughout the brain.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 24, 2022