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NM_015560.2(OPA1):c.880G>T (p.Val294Phe)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 29, 2019)
Last evaluated:
Mar 21, 2014
Accession:
VCV000214902.2
Variation ID:
214902
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.880G>T (p.Val294Phe)

Allele ID
210992
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193637961 (GRCh38) GRCh38 UCSC
3: 193355750 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193355750G>T
NC_000003.12:g.193637961G>T
NM_130837.2:c.1045G>T NP_570850.2:p.Val349Phe missense
... more HGVS
Protein change
V294F, V349F, V312F, V170F, V276F, V295F, V331F, V313F, V171F, V258F
Other names
-
Canonical SPDI
NC_000003.12:193637960:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA320567
dbSNP: rs863224131
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 Mar 21, 2014 RCV000196148.2
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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
(Mar 21, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000251990.11
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The V294F variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. This variant was … (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 rs863224131...

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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