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NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Dec 14, 2015
Accession:
VCV000432045.2
Variation ID:
432045
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.1037G>A (p.Arg346Gln)

Allele ID
425540
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193642817 (GRCh38) GRCh38 UCSC
3: 193360606 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193360606G>A
NC_000003.12:g.193642817G>A
NM_001354663.2:c.668G>A NP_001341592.1:p.Arg223Gln missense
... more HGVS
Protein change
R346Q, R401Q, R347Q, R383Q, R222Q, R223Q, R310Q, R328Q, R364Q, R365Q
Other names
-
Canonical SPDI
NC_000003.12:193642816:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA355788891
dbSNP: rs1180256773
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Dec 14, 2015 RCV000498233.1
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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
Likely pathogenic
(Dec 14, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589716.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The R346Q variant in the OPA1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This … (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 rs1180256773...

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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 Feb 27, 2021