ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.136dup (p.Ile46fs)

dbSNP: rs1553594009
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Total submissions: 2
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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 RCV000660199 SCV000782198 likely pathogenic Waardenburg syndrome type 1 2016-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002530562 SCV003349694 pathogenic not provided 2024-10-26 criteria provided, single submitter clinical testing 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). 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: 547731). For these reasons, this variant has been classified as Pathogenic.

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