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NC_012920.1(MT-CO1):m.6489C>A AND Leigh syndrome

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 17, 2019
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:
RCV000853976.1

Allele description [Variation Report for NC_012920.1(MT-CO1):m.6489C>A]

NC_012920.1(MT-CO1):m.6489C>A

Gene:
MT-CO1:mitochondrially encoded cytochrome c oxidase I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-CO1):m.6489C>A
Other names:
L196I
HGVS:
NC_012920.1:m.6489C>A
Protein change:
LEU196ILE
Links:
OMIM: 516030.0008; dbSNP: rs28461189
NCBI 1000 Genomes Browser:
rs28461189

Condition(s)

Name:
Leigh syndrome (NULS)
Synonyms:
Leigh Disease; Subacute necrotizing encephalopathy; Necrotizing encephalopathy infantile subacute of Leigh; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009723; MedGen: C0023264; Orphanet: 506; OMIM: 256000

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000997009Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))		Benign
(Oct 17, 2019) 		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 Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000997009.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The NC_012920.1:m.6489C>A (YP_003024028.1:p.Leu196Ile) variant in MTCO1 gene is interpretated to be a Benign variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BS1, BS2

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

Last Updated: May 19, 2024