ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)

dbSNP: rs1356246522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660200 SCV000782200 likely pathogenic Waardenburg syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 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.

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