ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2428G>T (p.Gly810Ter) (rs1131691758)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493515 SCV000582771 pathogenic not provided 2016-05-03 criteria provided, single submitter clinical testing The G876X nonsense variant in the PTCH1 gene is predicted to cause loss of normal protein functioneither through protein truncation or nonsense-mediated mRNA decay. It was not observed inapproximately 6,500 individuals of European and African American ancestry in the NHLBI ExomeSequencing Project, indicating it is not a common benign variant in these populations. Although thisvariant has not been reported previously, we interpret it as pathogenic.

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