ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)

dbSNP: rs1555939523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660272 SCV000782297 pathogenic Waardenburg syndrome type 4C 2016-11-01 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001290165 SCV001478222 pathogenic Waardenburg syndrome type 2E 2019-01-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533451 SCV004708568 pathogenic SOX10-related disorder 2023-10-27 criteria provided, single submitter clinical testing The SOX10 c.127C>T variant is predicted to result in premature protein termination (p.Arg43*). This variant was reported as de novo in at least one patient with Waardenburg syndrome (Li. 2019. PubMed ID: 30936914; Wang. 2021. PubMed ID: 34142234; Li. 2022. PubMed ID: 36576601). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in SOX10 are expected to be pathogenic. This variant is interpreted as pathogenic.

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