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m.3635G>A

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: May 12, 2021)
Last evaluated:
Oct 17, 2019
Accession:
VCV000065518.3
Variation ID:
65518
Description:
single nucleotide variant
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m.3635G>A

Allele ID
76426
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
-
Genomic location
MT: 3635 (GRCh38) GRCh38 UCSC
MT: 3635 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_012920.1:m.3635G>A YP_003024026.1:p.Ser110Asn missense
NC_012920.1:m.3635G>A YP_003024026.1:p.Ser110Asn missense
NC_012920.1:m.3635G>A missense
Protein change
S110N
Other names
-
Canonical SPDI
NC_012920.1:3634:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Genetic Testing Registry (GTR): GTR000591975
Genetic Testing Registry (GTR): GTR000591976
dbSNP: rs397515507
ClinGen: CA344827
Genetic Testing Registry (GTR): GTR000591967
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Oct 17, 2019 RCV000055707.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MT-ND1 - - GRCh38 174 174

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Oct 17, 2019)
criteria provided, single submitter
Method: clinical testing
Leber hereditary optic neuropathy
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000996715.1
Submitted: (Oct 17, 2019)
Evidence details
Publications
PubMed (4)
Comment:
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variant in MTND1 gene is interpretated to be a Likely Pathogenic variant based on the modified ACMG guidelines (unpublished).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 … (more)
Pathogenic
(Mar 03, 2021)
no assertion criteria provided
Method: literature only
Leber hereditary optic neuropathy
Allele origin: maternal
GeneReviews
Accession: SCV000086633.2
Submitted: (May 12, 2021)
Evidence details
Publications
PubMed (2)
BookShelf: NBK1174
Comment:
This mitochondrial DNA variant affects function. It hase been identified in at least two independent LHON pedigrees and segregates with affected disease status.

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Leber Hereditary Optic Neuropathy Yu-Wai-Man P - 2021 PMID: 20301353
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches. Jurkute N European journal of human genetics : EJHG 2019 PMID: 30143805
Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families. Zhang J Mitochondrion 2014 PMID: 25194554
Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation. Yang J Biochemical and biophysical research communications 2009 PMID: 19497304
Sequence variation in mitochondrial complex I genes: mutation or polymorphism? Mitchell AL Journal of medical genetics 2006 PMID: 15972314
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Brown MD Human genetics 2001 PMID: 11479733

Text-mined citations for rs397515507...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Aug 27, 2021