The c.706C>G (p.Leu236Val) variant in SLC26A4 was identified in 0.026% (9/34592) of Latino chromosomes, 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_Supporting; gnomad.broadinstitute.org). This variant has been detected in 1 proband with hearing loss in trans with a pathogenic variant, in 2 probands with hearing loss with a second pathogenic variant with phase unknown, and in the homozygous state in 1 proband with hearing loss (PM3_Strong; Partners Laboratory for Molecular Medicine internal data ClinVar SCV000060159.5, ARUP internal data ClinVar SCV000605149.1, Chinese PLA General Hospital internal data, Molecular Otolaryngology and Renal Research Laboratories internal data). 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 Laboratory for Molecular Medicine internal data ClinVar SCV000060159.5). At least one patient with a variant in this gene displayed features of hearing loss with temporal bone abnormality (PP4; Partners Laboratory for Molecular Medicine internal data ClinVar SCV000060159.5). Of note, this variant has been suggested to constitute a haplotype with c.200C>G (p.Thr67Ser), which the Hearing Loss Expert Panel has classified as likely benign. 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: PM3_Strong, PM5, PM2_Supporting, PP1, PP4.