ClinVar Miner

Submissions for variant NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)

dbSNP: rs1932130190
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital RCV001290180 SCV001478238 pathogenic Waardenburg syndrome type 2E 2019-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871731 SCV002144327 pathogenic not provided 2021-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the SOX10 protein. Other variant(s) that disrupt this region (p.Gln399Valfs*2) have been determined to be pathogenic (PMID: 23237859). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has been observed in individual(s) with SOX10-related conditions (PMID: 28000701, 31427586). ClinVar contains an entry for this variant (Variation ID: 995940). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln399*) in the SOX10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 68 amino acid(s) of the SOX10 protein.

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