ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.1166C>G (p.Ser389Ter)

dbSNP: rs758136826
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825626 SCV000966980 pathogenic Rare genetic deafness 2018-05-07 criteria provided, single submitter clinical testing The p.Ser388X variant in PAX3 has not been previously reported in individuals wi th Waardenburg syndrome and was absent from large population studies. This nons ense variant leads to a premature termination codon at position 388, which is pr edicted to lead to a truncated or absent protein. Heterozygous loss of function of the PAX3 gene is an established disease mechanism in Waardenburg syndrome. In summary, this variant meets criteria to be classified as pathogenic for autos omal dominant Waardenburg syndrome based on the predicted impact of the variant, absence from controls, and presence in an individual with clinical features of Waardenburg syndrome. ACMG/AMP Criteria applied: PVS1, PM2, PP4.

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