The allele frequency of the c.401T>A (p.Ile134Asn) variant in the MYO7A gene is 0.0062% (7/112888) of European (non-Finnish) chromosomes by gnomAD, which is a low enough frequency to apply PM2 based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive hearing loss. This variant has been detected in 5 probands with Usher syndrome. For 2 of those probands, pathogenic variants (c.19-1G>A and Gly214Arg) were observed in trans, and in the other 3 probands, a pathogenic variant was observed with unknown phase (PM3_Strong, PMIDs: 25468891, 26969326, Partners LMM Internal Data ClinVar SCV000059786.6). The variant has been reported to segregate with hearing loss in one affected family member (PP1, Partners LMM Internal Data ClinVar SCV000059786.6). The REVEL computational prediction tool produced a score of 0.938, which is above the threshold necessary to apply PP3. At least one patient with this variant displayed features of sensorineural hearing loss and retinitis pigmentosa, which are consistent for Usher syndrome, a condition highly specific for MYO7A (PP4, Partners LMM Internal Data ClinVar SCV000059786.6). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Usher syndrome based on the ACMG/AMP criteria applied as specified by the Hearing Loss Expert Panel (PM3_Strong, PM2, PP1, PP3, PP4).