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NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 3, 2021)
Last evaluated:
Dec 10, 2020
Accession:
VCV000517377.4
Variation ID:
517377
Description:
single nucleotide variant
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NM_001277269.1(OTOG):c.3395T>C (p.Leu1132Pro)

Allele ID
497190
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17594117 (GRCh38) GRCh38 UCSC
11: 17615664 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17594117T>C
NC_000011.9:g.17615664T>C
NG_033191.1:g.51745T>C
... more HGVS
Protein change
L1132P, L1120P
Other names
-
Canonical SPDI
NC_000011.10:17594116:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00006
The Genome Aggregation Database (gnomAD) 0.00010
Trans-Omics for Precision Medicine (TOPMed) 0.00015
Links
ClinGen: CA5905727
dbSNP: rs757588809
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 May 16, 2017 RCV000604848.1
Uncertain significance 1 criteria provided, single submitter Dec 10, 2020 RCV001548141.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
OTOG - - GRCh38
GRCh37
649 672

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(May 16, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000731627.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Leu1132Pro variant in OTOG has not been previously reported in individuals with hearing loss, but has been identified in 12/67064 European chromosomes by the … (more)
Uncertain significance
(Dec 10, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001768000.1
Submitted: (Aug 03, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to … (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 rs757588809...

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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 Sep 23, 2021