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NM_001277269.1(OTOG):c.1829G>A (p.Arg610His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Feb 16, 2017
Accession:
VCV000517260.2
Variation ID:
517260
Description:
single nucleotide variant
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NM_001277269.1(OTOG):c.1829G>A (p.Arg610His)

Allele ID
497188
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17570228 (GRCh38) GRCh38 UCSC
11: 17591775 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17570228G>A
NC_000011.9:g.17591775G>A
NM_001277269.1:c.1829G>A NP_001264198.1:p.Arg610His missense
... more HGVS
Protein change
R610H, R598H
Other names
-
Canonical SPDI
NC_000011.10:17570227:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA218504251
dbSNP: rs1032491736
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 16, 2017 RCV000612114.1
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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
Uncertain significance
(Feb 16, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000731448.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
The p.Arg610His variant in OTOG has not been previously reported in individuals with hearing loss. This variant has been identified in 3/67514 European chromos omes … (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 rs1032491736...

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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 Jul 07, 2021