ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.246C>G (p.Cys82Trp) (rs777297575)

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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 RCV000660204 SCV000782204 likely pathogenic Klein-Waardenberg's syndrome 2016-11-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826182 SCV000967723 likely pathogenic Rare genetic deafness 2018-07-31 criteria provided, single submitter clinical testing The p.Cys82Trp variant in PAX3 has been reported in ClinVar in a proband with Wa ardenburg syndrome and distal arthrogryposis (Variation ID: 547736, personal com munication). It is absent from large population databases including the Genome Aggregation Database (gnomAD, Computational prediction tools and conservation analysis suggest that the p.Cys82Trp variant m ay impact the protein. Also, the variant is located in a hotspot for pathogenic variants within the paired domain of the Pax-3 protein (Pingault 2010). In summa ry, the clinical significance of the p.Cys82Trp variant is likely pathogenic. AC MG/AMP Criteria applied: PM2, PP3, PP4, PS4_Supporting, PM1_Supporting.

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