--- title: "MYO7A R1168Q (c.3503G>A, rs797044516) | Dante Labs" description: "ClinVar classifies MYO7A R1168Q as Pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/myo7a/variants/r1168q" --- 1. [Genes](https://dantelabs.com/genes) 2. [MYO7A](https://dantelabs.com/genes/myo7a) 3. MYO7A R1168Q Variant # MYO7A R1168Q NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) Also known as - p.Arg1168Gln - p.R1168Q - rs797044516 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 16 September 2019 * Expert panel ClinGen Hearing Loss Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary R1168Q is a missense variant in MYO7A: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Usher Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | ----------------- | | [Usher Syndrome](https://dantelabs.com/conditions/usher-syndrome) [ClinVar VCV000179479 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/179479/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 16 September 2019 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in MYO7A R1168Q lies in exon 27 of the 49 in MYO7A's MANE Select transcript, NM_000260.4. [MYO7A variants in exon 27 →](https://dantelabs.com/genes/myo7a/variants?exon=27) [MYO7A's gene diagram →](https://dantelabs.com/genes/myo7a#gene-structure) ## Molecular details | Gene | [MYO7A](https://dantelabs.com/genes/myo7a) | | --------------------------- | -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000260.4 MANE Select | | Coding DNA change (HGVS c.) | c.3503G>A | | Protein change (HGVS p.) | p.Arg1168Gln p.R1168Q | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) [exonic_splice_region_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0002084) | | Predicted impact | Moderate | | Position (GRCh38) | chr11:77184715 G>A | | Position (GRCh37) | chr11:76895760 G>A | | dbSNP ID | [rs797044516 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs797044516) | | ClinVar Variation ID | [VCV000179479 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/179479/) | | ClinVar Allele ID | 178280 | | ClinGen Allele Registry ID | [CA184505 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA184505) | | ClinVar name | NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) | ## MYO7A R1168Q in other databases - [ClinVar VCV000179479 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/179479/) - [dbSNP rs797044516 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs797044516) - [ClinGen Allele Registry CA184505 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA184505) - [gnomAD 11-77184715-G-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/11-77184715-G-A?dataset=gnomad_r4) - [Ensembl rs797044516 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs797044516) ## Reports that look at this variant (1) These Genome Test condition reports include R1168Q among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------------- | -------------- | ------------------- | | [Usher Syndrome](https://dantelabs.com/conditions/usher-syndrome) | Usher Syndrome | Autosomal recessive | ## Other variants in MYO7A - [A1288P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/a1288p) - [E968D Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/e968d) - [G2187D Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/g2187d) - [H133N Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/h133n) - [I134N Pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/i134n) - [K2021R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/k2021r) - [L326Q Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/l326q) - [L1935P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/l1935p) - [N1182K Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/n1182k) - [R395C Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/r395c) [All MYO7A variants](https://dantelabs.com/genes/myo7a/variants) ## 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 APA > Dante Labs. (16 October 2026). MYO7A R1168Q (c.3503G>A, rs797044516) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/myo7a/variants/r1168q Vancouver > Dante Labs. MYO7A R1168Q (c.3503G>A, rs797044516) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/myo7a/variants/r1168q Download citation [RIS](https://dantelabs.com/genes/myo7a/variants/r1168q/cite.ris) [BibTeX](https://dantelabs.com/genes/myo7a/variants/r1168q/cite.bib) [CSL-JSON](https://dantelabs.com/genes/myo7a/variants/r1168q/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)