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NM_015560.2(OPA1):c.1847+1G>T

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Sep 25, 2021)
Last evaluated:
Jul 16, 2021
Accession:
VCV000431940.3
Variation ID:
431940
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.1847+1G>T

Allele ID
425543
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193366661 (GRCh37) GRCh37 UCSC
3: 193648872 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_337:g.60729G>T
NC_000003.11:g.193366661G>T
NC_000003.12:g.193648872G>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:193648871:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA355790949
dbSNP: rs863224134
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 16, 2021 RCV000497677.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OPA1 - - GRCh38
GRCh37
498 564

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jul 16, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589520.3
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed … (more)

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs863224134...

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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 Sep 26, 2021