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NC_012920.1(MT-ND1):m.3496G>A AND Leigh syndrome

Germline classification:
Uncertain significance (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:
RCV000853663.1

Allele description [Variation Report for NC_012920.1(MT-ND1):m.3496G>A]

NC_012920.1(MT-ND1):m.3496G>A

Gene:
MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
NC_012920.1(MT-ND1):m.3496G>A
HGVS:
NC_012920.1:m.3496G>A
Links:
dbSNP: rs1603218984
NCBI 1000 Genomes Browser:
rs1603218984

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
SCV000996692Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
criteria provided, single submitter

(Modified ACMG Guidelines (Unpublished))		Uncertain significance
(Oct 17, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Sequence variation in mitochondrial complex I genes: mutation or polymorphism?

Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM.

J Med Genet. 2006 Feb;43(2):175-9. Epub 2005 Jun 21.

PubMed [citation]
PMID:
15972314
PMCID:
PMC2564640

Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy.

Matsumoto M, Hayasaka S, Kadoi C, Hotta Y, Fujiki K, Fujimaki T, Takeda M, Ishida N, Endo S, Kanai A.

Ophthalmic Genet. 1999 Sep;20(3):153-60.

PubMed [citation]
PMID:
10520236

Details of each submission

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000996692.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The NC_012920.1:m.3496G>A (YP_003024026.1:p.Ala64Thr) variant in MTND1 gene is interpretated to be a Uncertain Significance variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: BP4

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

Last Updated: May 19, 2024