Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000660199 | SCV000782198 | likely pathogenic | Waardenburg syndrome type 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530562 | SCV003349694 | pathogenic | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547731). This variant has not been reported in the literature in individuals affected with PAX3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ile46Asnfs*68) 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). |