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m.5532G>A AND Juvenile myopathy, encephalopathy, lactic acidosis AND stroke

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 4, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV002247284.1

Allele description [Variation Report for m.5532G>A]

m.5532G>A

Gene:
MT-TW:mitochondrially encoded tRNA tryptophan [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.5532G>A
HGVS:
  • NC_012920.1:m.5532G>A
  • NC_012920.1:g.5532G>A
Nucleotide change:
5532G-A
Links:
OMIM: 590095.0004; dbSNP: rs199474674
NCBI 1000 Genomes Browser:
rs199474674

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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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002517739Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Pathogenic
(May 4, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV002517739.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022