Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Sep 24, 2021)
Last evaluated:
Sep 19, 2020
Accession:
VCV000427152.4
Variation ID:
427152
Description:
single nucleotide variant
Help

NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)

Allele ID
414928
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193667259 (GRCh38) GRCh38 UCSC
3: 193385048 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_337:g.79116G>A
LRG_337t1:c.2797G>A LRG_337p1:p.Val933Ile
NM_015560.2:c.2797G>A NP_056375.2:p.Val933Ile missense
... more HGVS
Protein change
V933I, V988I, V970I, V810I, V915I, V952I, V809I, V934I, V897I, V951I
Other names
-
Canonical SPDI
NC_000003.12:193667258:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA2759786
dbSNP: rs375733283
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 19, 2020 RCV000489553.2
Uncertain significance 1 criteria provided, single submitter Sep 28, 2017 RCV001146349.1
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OPA1 - - GRCh38
GRCh37
498 564

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 19, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000577786.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter … (more)
Uncertain significance
(Sep 28, 2017)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant optic atrophy classic form
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001307090.1
Submitted: (Feb 20, 2020)
Evidence details
Publications
PubMed (3)
Comment:
This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Retinal dysfunction characterizes subtypes of dominant optic atrophy. Cascavilla ML Acta ophthalmologica 2018 PMID: 28926202
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations. Rocca MA Journal of neurology 2015 PMID: 25794858
OPA1 mutations associated with dominant optic atrophy influence optic nerve head size. Barboni P Ophthalmology 2010 PMID: 20417568

Text-mined citations for rs375733283...

Help
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 Oct 24, 2021