The allele frequency of the p.Leu236Val variant in the SLC26A4 gene is 0.027% (9/33580) of Latino chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org), which is a low enough frequency to apply PM2_Supporting based on the thresholds defined by the ClinGen Hearing Loss Expert Panel for autosomal recessive Pendred syndrome (PM2_P). This variant has been detected in 1 proband with hearing loss in trans with a pathogenic variant (PM3; Partners LMM internal data SCV000060159.5). A different pathogenic missense variant (p.Leu236Pro) has been previously identified at this codon of SLC26A4 which may indicate that this residue is critical to the function of the protein (PM5; ClinVar Variation ID 4817). The variant has been reported to segregate with hearing loss in two affected family members (PP1, Partners LMM internal data SCV000060159.5). At least one patient with a variant in this gene displayed features of hearing loss with temporal bone abnormality (PP4; Partners LMM internal data SCV000060159.5). In summary, this variant meets criteria to be classified as likely pathogenic for autosomal recessive Pendred syndrome based on the ACMG/AMP criteria applied, as specified by the Hearing Loss Expert Panel: PM5, PM3, PM2_P, PP1, PP4.