Variant
OTOF E1700Q
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)
- DFNB9: otoferlin
- p.Glu1700Gln
- p.E1700Q
- rs199766465
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 28 June 2024
- Expert panel
- ClinGen Hearing Loss Variant Curation Expert Panel
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
E1700Q is a missense variant in OTOF: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Nonsyndromic Genetic Hearing Loss (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Nonsyndromic Genetic Hearing LossClinVar VCV000048253 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 28 June 2024 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Molecular details
| Gene | OTOF |
|---|---|
| Transcript | NM_194248.3MANE Select |
| Coding DNA change (HGVS c.) | c.5098G>C |
| Protein change (HGVS p.) | p.Glu1700Glnp.E1700Q |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr2:26463969 C>G |
| Position (GRCh37) | chr2:26686837 C>G |
| dbSNP ID | rs199766465 (opens in a new tab) |
| ClinVar Variation ID | VCV000048253 (opens in a new tab) |
| ClinVar Allele ID | 57417 |
| ClinGen Allele Registry ID | CA345132 (opens in a new tab) |
| ClinVar name | NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) |
| Other names | DFNB9: otoferlin |
OTOF E1700Q in other databases
Reports that look at this variant (1)
These Genome Test condition reports include E1700Q among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hearing Loss and Deafness | Nonsyndromic Genetic Hearing Loss |
Other variants in OTOF
- c.2215-1G>CLikely pathogenic3 stars out of 4
- c.5193-1G>ALikely pathogenic3 stars out of 4
- Q829XPathogenic3 stars out of 4
- R708XPathogenic3 stars out of 4
- R1583HLikely pathogenic3 stars out of 4
- R1792CLikely pathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). OTOF E1700Q (c.5098G>C, rs199766465) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/otof/variants/e1700q
Dante Labs. OTOF E1700Q (c.5098G>C, rs199766465) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/otof/variants/e1700q
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