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NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 10, 2018)
Last evaluated:
Feb 8, 2018
Accession:
VCV000618258.1
Variation ID:
618258
Description:
single nucleotide variant
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NM_130837.2(OPA1):c.1744A>C (p.Lys582Gln)

Allele ID
609507
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q29
Genomic location
3: 193645790 (GRCh38) GRCh38 UCSC
3: 193363579 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.12:g.193645790A>C
NC_000003.11:g.193363579A>C
NM_001354663.2:c.1210A>C NP_001341592.1:p.Lys404Gln missense
... more HGVS
Protein change
K527Q, K582Q, K545Q, K404Q, K491Q, K546Q, K564Q, K403Q, K509Q, K528Q
Other names
-
Canonical SPDI
NC_000003.12:193645789:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs766935532
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Feb 8, 2018 RCV000756449.1
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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
Uncertain significance
(Feb 08, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000884268.1
Submitted: (Oct 10, 2018)
Evidence details
Comment:
The OPA1: c.1744A>C; p.Lys582Gln variant (rs766935532) has not been reported in the medical literature, is not listed in gene-specific variant databases, nor has it been … (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 rs766935532...

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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 05, 2021