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NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 19, 2021)
Last evaluated:
Jan 30, 2021
Accession:
VCV001048151.1
Variation ID:
1048151
Description:
single nucleotide variant
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NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)

Allele ID
1036077
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193692066 (GRCh38) GRCh38 UCSC
3: 193409855 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.193409855A>C
NC_000003.12:g.193692066A>C
NM_130837.3:c.2987A>C MANE Select NP_570850.2:p.Lys996Thr missense
... more HGVS
Protein change
K817T, K818T, K905T, K923T, K941T, K942T, K959T, K960T, K978T, K996T
Other names
-
Canonical SPDI
NC_000003.12:193692065:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jan 30, 2021 RCV001353002.1
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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
(Jan 30, 2021)
criteria provided, single submitter
Method: clinical testing
Autosomal dominant optic atrophy classic form
Allele origin: unknown
Institute of Medical Molecular Genetics, University of Zurich
Accession: SCV001548096.1
Submitted: (Mar 19, 2021)
Evidence details
Publications
PubMed (1)

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
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. Maggi J International journal of molecular sciences 2021 PMID: 33546218

Record last updated Apr 08, 2021