--- title: "MYO7A L1935P (c.5804T>C, rs397516323) | Dante Labs" description: "ClinVar classifies MYO7A L1935P as Likely 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/l1935p" --- 1. [Genes](https://dantelabs.com/genes) 2. [MYO7A](https://dantelabs.com/genes/myo7a) 3. MYO7A L1935P Variant # MYO7A L1935P NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) Also known as - p.Leu1935Pro - p.L1935P - rs397516323 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 24 September 2024 * Expert panel ClinGen Hearing Loss Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911 Facts last changed 19 October 2026 ## Summary L1935P is a missense variant in MYO7A: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely 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 VCV000043298 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/43298/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 24 September 2024 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## ACMG/AMP criteria The ACMG/AMP criteria L1935P meets, from its predicted effect in MYO7A, gnomAD and ClinVar. | Criterion | Strength | Points | Rests on | | ----------------------------------------------- | ---------- | ----------- | ----------------------------------------------------- | | PP5 A reputable source reports it as pathogenic | Supporting | Not counted | ClinVar: Likely pathogenic (reviewed by expert panel) | On these criteria alone: 0 points, uncertain significance. Assessed automatically, without functional, computational or family evidence. Not a clinical classification. ## Population frequency How often L1935P is seen among the people whose exomes and genomes gnomAD 4.1 brings together. | Dataset | Allele frequency | Allele count | Homozygotes | Commonest in | | -------------- | --------------------- | --------------- | ----------- | -------------------------------- | | gnomAD exomes | 0.0019% 1 in 52,162 | 28 of 1,460,532 | 0 | African/African American: 0.003% | | gnomAD genomes | 0.00066% 1 in 152,182 | 1 of 152,182 | 0 | European (non-Finnish): 0.0015% | Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result. [L1935P in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/11-77207350-T-C?dataset=gnomad_r4) ## Where it lies in MYO7A L1935P lies in exon 42 of the 49 in MYO7A's MANE Select transcript, NM_000260.4. [MYO7A variants in exon 42 →](https://dantelabs.com/genes/myo7a/variants?exon=42) [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.5804T>C | | Protein change (HGVS p.) | p.Leu1935Pro p.L1935P | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr11:77207350 T>C | | Position (GRCh37) | chr11:76918395 T>C | | dbSNP ID | [rs397516323 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs397516323) | | ClinVar Variation ID | [VCV000043298 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/43298/) | | ClinVar Allele ID | 52468 | | ClinGen Allele Registry ID | [CA278691 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA278691) | | ClinVar name | NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) | ## MYO7A L1935P in other databases - [ClinVar VCV000043298 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/43298/) - [dbSNP rs397516323 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs397516323) - [ClinGen Allele Registry CA278691 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA278691) - [gnomAD 11-77207350-T-C (opens in a new tab)](https://gnomad.broadinstitute.org/variant/11-77207350-T-C?dataset=gnomad_r4) - [Ensembl rs397516323 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs397516323) ## Reports that look at this variant (1) These Genome Test condition reports include L1935P 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) - [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) - [R668C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/myo7a/variants/r668c) [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 2026-10-19-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19). - 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 2026.10.19-9814e911 of 19 October 2026. ## Cite this page APA > Dante Labs. (19 October 2026). MYO7A L1935P (c.5804T>C, rs397516323) (Version 2026.10.19-9814e911). Retrieved 21 October 2026, from https\://dantelabs.com/genes/myo7a/variants/l1935p Vancouver > Dante Labs. MYO7A L1935P (c.5804T>C, rs397516323) \[Internet]. Version 2026.10.19-9814e911. 19 October 2026 \[cited 21 October 2026]. Available from: https\://dantelabs.com/genes/myo7a/variants/l1935p Download citation [RIS](https://dantelabs.com/genes/myo7a/variants/l1935p/cite.ris) [BibTeX](https://dantelabs.com/genes/myo7a/variants/l1935p/cite.bib) [CSL-JSON](https://dantelabs.com/genes/myo7a/variants/l1935p/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)