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NM_001292063.2(OTOG):c.499del (p.Val167fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 21, 2019)
Last evaluated:
May 23, 2018
Accession:
VCV000228284.4
Variation ID:
228284
Description:
1bp deletion
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NM_001292063.2(OTOG):c.499del (p.Val167fs)

Allele ID
230048
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17553477 (GRCh38) GRCh38 UCSC
11: 17575024 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17553478del
NC_000011.9:g.17575025del
NG_033191.2:g.11106del
... more HGVS
Protein change
V167fs
Other names
-
Canonical SPDI
NC_000011.10:17553476:GG:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA5905365
dbSNP: rs876657657
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 23, 2018 RCV000487342.3
Likely pathogenic 1 criteria provided, single submitter Feb 4, 2016 RCV000218007.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Pathogenic
(Mar 09, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000573779.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The c.535delG variant in the OTOG gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The … (more)
Likely pathogenic
(Feb 04, 2016)
criteria provided, single submitter
Method: clinical testing
Rare genetic deafness
(Autosomal recessive inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000271254.3
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Val179fs variant in OTOG has not been previously reported in individuals w ith hearing loss. This variant has been identified in 1/722 of African … (more)
Likely pathogenic
(May 23, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842986.1
Submitted: (Aug 31, 2018)
Evidence details

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 rs876657657...

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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 Oct 24, 2021