Variant
MYO7A R1873Q
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln)
- p.Arg1873Gln
- p.R1873Q
- rs397516322
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 26 November 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-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
R1873Q 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 SyndromeClinVar VCV000043292 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 26 November 2019 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in MYO7A
R1873Q lies in exon 40 of the 49 in MYO7A's MANE Select transcript, NM_000260.4.
Molecular details
| Gene | MYO7A |
|---|---|
| Transcript | NM_000260.4MANE Select |
| Coding DNA change (HGVS c.) | c.5618G>A |
| Protein change (HGVS p.) | p.Arg1873Glnp.R1873Q |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr11:77205599 G>A |
| Position (GRCh37) | chr11:76916644 G>A |
| dbSNP ID | rs397516322 (opens in a new tab) |
| ClinVar Variation ID | VCV000043292 (opens in a new tab) |
| ClinVar Allele ID | 52462 |
| ClinGen Allele Registry ID | CA278687 (opens in a new tab) |
| ClinVar name | NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) |
MYO7A R1873Q in other databases
Reports that look at this variant (1)
These Genome Test condition reports include R1873Q among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Usher Syndrome | Usher Syndrome | Autosomal recessive |
Other variants in MYO7A
- A1288PLikely pathogenic3 stars out of 4
- E968DLikely pathogenic3 stars out of 4
- G2187DLikely pathogenic3 stars out of 4
- H133NLikely pathogenic3 stars out of 4
- I134NPathogenic3 stars out of 4
- K2021RLikely pathogenic3 stars out of 4
- L326QLikely pathogenic3 stars out of 4
- L1935PLikely pathogenic3 stars out of 4
- N1182KLikely pathogenic3 stars out of 4
- R395CLikely 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). MYO7A R1873Q (c.5618G>A, rs397516322) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/myo7a/variants/r1873q
Dante Labs. MYO7A R1873Q (c.5618G>A, rs397516322) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/myo7a/variants/r1873q
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