rs200683397

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge

The p.Cys71Gly variant in SOX10 has been identified by our laboratory in 1 Hispa nic individual with unilateral sensorineural hearing loss. It has also been iden tified in 2/33246 Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs200683397). Although this variant has been seen in the general population, its frequency is not high enough to rule o ut a pathogenic role. Computational prediction tools and conservation analysis s uggest that the variant may not impact the protein, though this information is n ot predictive enough to rule out pathogenicity. In summary, the clinical signifi cance of the p.Cys71Gly variant is uncertain. ACMG/AMP Criteria applied: PM2, BP 4.