ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.207_208del (p.Cys71fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University RCV001093609 SCV001245533 pathogenic Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease 2020-05-02 no assertion criteria provided research 1. de novo occurrence. 2. supporting evidences from functional studies: reporter assay confirmed sever disruption of MITF transcription activation activity ; subcellular localization study indicated loss of nuclear localization compared to wildtype SOX10. multiple in silico prediction (SIFT, Polyphen-2, Mutpred), segregation studies, absence from controls, and functional evidence.

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