Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660200 | SCV000782200 | likely pathogenic | Waardenburg syndrome type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genetic Testing Center for Deafness, |
RCV000660200 | SCV001478195 | pathogenic | Waardenburg syndrome type 1 | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530563 | SCV003217857 | pathogenic | not provided | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Cys70*) in the PAX3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PAX3 are known to be pathogenic (PMID: 20127975, 23512835). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PAX3-related conditions. ClinVar contains an entry for this variant (Variation ID: 547732). For these reasons, this variant has been classified as Pathogenic. |