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NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 29, 2019)
Last evaluated:
Nov 15, 2016
Accession:
VCV000432190.2
Variation ID:
432190
Description:
single nucleotide variant
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NM_015560.2(OPA1):c.1301T>C (p.Leu434Pro)

Allele ID
425541
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193643616 (GRCh38) GRCh38 UCSC
3: 193361405 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193361405T>C
NC_000003.12:g.193643616T>C
NM_001354663.2:c.932T>C NP_001341592.1:p.Leu311Pro missense
... more HGVS
Protein change
L434P, L489P, L416P, L398P, L471P, L435P, L452P, L310P, L311P, L453P
Other names
-
Canonical SPDI
NC_000003.12:193643615:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA355789650
dbSNP: rs1553877946
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 15, 2016 RCV000497888.2
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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
Uncertain significance
(Nov 15, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000702813.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely pathogenic
(Jun 10, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589881.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The L434P variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L434P … (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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=OPA1 - - - -

Text-mined citations for rs1553877946...

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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