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NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Sep 11, 2019
Accession:
VCV001031281.1
Variation ID:
1031281
Description:
single nucleotide variant
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NM_001292063.2(OTOG):c.6197A>G (p.His2066Arg)

Allele ID
1017425
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11p15.1
Genomic location
11: 17612235 (GRCh38) GRCh38 UCSC
11: 17633782 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.17612235A>G
NC_000011.9:g.17633782A>G
NM_001292063.2:c.6197A>G MANE Select NP_001278992.1:p.His2066Arg missense
... more HGVS
Protein change
H2066R, H2078R
Other names
-
Canonical SPDI
NC_000011.10:17612234:A:G
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
Uncertain significance 1 criteria provided, single submitter Sep 11, 2019 RCV001333069.1
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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
(Sep 11, 2019)
criteria provided, single submitter
Method: clinical testing
Deafness, autosomal recessive 18b
Allele origin: unknown
Baylor Genetics
Accession: SCV001525554.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.

Record last updated Mar 28, 2021