The p.Asn1182Lys variant in MYO7A is a missense variant predicted to cause substitution of asparagine to lysine at amino acid 1182. This variant is absent from large population studies (PM2_Supporting, gnomAD v2.1.1). The computational predictor REVEL gives a score of 0.833 which is above the threshold necessary to apply PP3; however, this information is not predictive of pathogenicity on its own (PP3). This variant has been detected in at least four probands with AR Usher syndrome. Two patients were homozygous for the variant, while the other two were compound heterozygous with a pathogenic or likely pathogenic variant; however only one was confirmed trans (c.721C>T (p.Arg241Cys), 2.0 PM3_Strong points, PMID:27460420, 28041643, 31479088, Invitae Internal Data (SCV001211338.4)). At least one patient with a variant identified in this gene displayed sensorineural hearing loss and retinitis pigmentosa, features consistent with Usher syndrome (PP4). The variant has been reported to segregate with AR Usher syndrome in 1 affected family member from 1 family (PP1; PMID: 31479088). In summary, this variant meets the criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome based on ACMG/AMP criteria applied, as specified by the ClinGen Hearing Loss VCEP; PM2_Supporting, PP3, PM3_Strong, PP1, PP4. (The ClinGen Hearing Loss VCEP Specifications Version 2; 06/27/2023).