ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.425G>C (p.Trp142Ser)

dbSNP: rs886039664
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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 RCV001170070 SCV001245534 pathogenic PCWH syndrome 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 deceased nuclear localization compared to wildtype SOX10.

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