ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.205C>T (p.Arg69Ter) (rs1131690986)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000492613 SCV000581047 pathogenic Hereditary cancer-predisposing syndrome 2018-03-09 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
GeneDx RCV000760320 SCV000890176 pathogenic not provided 2018-07-06 criteria provided, single submitter clinical testing The R135X variant in the PTCH1 gene has been reported previously in association with Gorlin syndrome (Wicking et al., 1997; Klein et al., 2005). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R135X variant is not observed in large population cohorts (Lek et al., 2016). We interpret R135X as a pathogenic variant.
Invitae RCV000687492 SCV000815061 pathogenic Gorlin syndrome 2018-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg135*) 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 been reported to be de novo in individuals affected with basal cell nevus syndrome (PMID: 8981943, 9415689, 16508594). ClinVar contains an entry for this variant (Variation ID: 428839). 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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