The variant NM_000260.4:c.983T>C in MYO7A is a missense variant predicted to cause substitution of leucine by proline at amino acid 328 (p.Leu328Pro). The variant is absent from gnomAD v4.1.0 (PM2_Supporting). The variant p.Leu328Pro variant was identified by multigene panel testing in a three year old male proband with congenital bilateral profound sensorineural hearing loss and pigmentary retinopathy, delayed motor milestones, blonde fundus, and a diagnosis of Usher Syndrome 1B (PP4, PMID: 32281467). The proband also harbored a likely pathogenic variant NM_000260(MYO7A):c.471-2A>C, however the phase of the variants was not confirmed (0.5 PM3 points, PM3_Supporting; PMID: 32281467). The computational predictor REVEL gives a score of 0.877, which is above the threshold necessary to apply PP3 (PP3). There is a ClinVar entry for this variant (Variation ID: 1308583, one star review status), with one submitter classifying the variant as uncertain significance. In summary, this variant has been classified as a variant of uncertain significance for autosomal recessive Usher syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen Hearing Loss VCEP: PM2_Supporting, PP3, PP4, PM3_Supporting (ClinGen Hearing Loss VCEP specifications version 2; 12/18/2024).