Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660285 | SCV000782310 | pathogenic | Waardenburg syndrome type 4C | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530565 | SCV003444388 | pathogenic | not provided | 2022-09-26 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects SOX10 function (PMID: 15004559). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. ClinVar contains an entry for this variant (Variation ID: 547785). This premature translational stop signal has been observed in individual(s) with SOX10-related conditions (PMID: 15004559). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln364*) in the SOX10 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 103 amino acid(s) of the SOX10 protein. |