m.3635G>A AND Leber hereditary optic neuropathy

Clinical significance:Likely pathogenic (Last evaluated: Oct 17, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000055707.3

Allele description [Variation Report for m.3635G>A]

m.3635G>A

Gene:
MT-ND1:mitochondrially encoded NADH dehydrogenase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Genomic location:
Preferred name:
m.3635G>A
HGVS:
  • NC_012920.1:m.3635G>A
  • NC_012920.1:m.3635G>A
  • NC_012920.1:m.3635G>A
  • YP_003024026.1:p.Ser110Asn
  • YP_003024026.1:p.Ser110Asn
  • AC_000021.2:m.3635G>A
Protein change:
S110N
Links:
dbSNP: rs397515507
NCBI 1000 Genomes Browser:
rs397515507

Condition(s)

Name:
Leber hereditary optic neuropathy (LHON)
Synonyms:
Optic Atrophy, Hereditary, Leber; Leber's disease; Optic atrophy, Leber type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010788; MedGen: C0917796; Orphanet: 104; OMIM: 535000; Human Phenotype Ontology: HP:0001112

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000086633GeneReviewsno assertion criteria providedPathogenic
(Mar 3, 2021)
maternalliterature only

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

SCV000996715Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicinecriteria provided, single submitter
Likely pathogenic
(Oct 17, 2019)
germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalunknownnot providednot providednot providednot providednot providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.

Jurkute N, Majander A, Bowman R, Votruba M, Abbs S, Acheson J, Lenaers G, Amati-Bonneau P, Moosajee M, Arno G, Yu-Wai-Man P.

Eur J Hum Genet. 2019 Mar;27(3):494-502. doi: 10.1038/s41431-018-0235-y. Epub 2018 Aug 24. No abstract available.

PubMed [citation]
PMID:
30143805
PMCID:
PMC6460557

Leber Hereditary Optic Neuropathy.

Yu-Wai-Man P, Chinnery PF.

2000 Oct 26 [updated 2021 Mar 11]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021.

PubMed [citation]
PMID:
20301353
See all PubMed Citations (6)

Details of each submission

From GeneReviews, SCV000086633.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

This mitochondrial DNA variant affects function. It hase been identified in at least two independent LHON pedigrees and segregates with affected disease status.

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

From Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine, SCV000996715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The NC_012920.1:m.3635G>A (YP_003024026.1:p.Ser110Asn) variant in MTND1 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished). This variant meets the following evidence codes: PS1, PM10, PP4

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

Last Updated: Aug 27, 2021

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