ClinVar Miner

Submissions for variant NM_006941.3(SOX10):c.211T>G (p.Cys71Gly) (rs200683397)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000214833 SCV000272451 uncertain significance not specified 2017-09-04 criteria provided, single submitter clinical testing 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.
Center for Human Genetics, Inc RCV000660274 SCV000782299 uncertain significance Waardenburg syndrome type 4C 2016-11-01 criteria provided, single submitter clinical testing

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