ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.392G>A (p.Trp131Ter) (rs1064793922)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478704 SCV000567353 pathogenic not provided 2015-07-23 criteria provided, single submitter clinical testing The W197X nonsense variant in the PTCH1 gene has been reported previously in association withGorlin syndrome (Musani et al., 2012).This pathogenic variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay.
Invitae RCV000551617 SCV000623052 pathogenic Gorlin syndrome 2018-06-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp197*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTCH1-related disease. ClinVar contains an entry for this variant (Variation ID: 419509). Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). For these reasons, this variant has been classified as Pathogenic.

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