ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1387A>T (p.Lys463Ter) (rs780434261)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440834 SCV000517361 pathogenic not provided 2016-01-29 criteria provided, single submitter clinical testing The K529X nonsense variant in the PTCH1 gene has been reported previouslyin association with Gorlin syndrome (Huang et al., 2013; Hasenpusch-Theil et al., 1998). Thispathogenic variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. The variant was not observed in approximately6,500 individuals of European and African American ancestry in the NHLBI Exome SequencingProject, indicating it is not a common benign variant in these populations.

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