ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.879del (p.Phe294fs)

dbSNP: rs1553572967
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002011952 SCV002223330 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with Waardenburg syndrome (PMID: 20127975). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the PAX3 protein in which other variant(s) (p.Val339Thrfs*70) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1447634). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe294Serfs*87) in the PAX3 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 186 amino acid(s) of the PAX3 protein.

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