ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.254_255del (p.Arg85fs)

dbSNP: rs1554708771
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000628352 SCV000749249 pathogenic Gorlin syndrome 2018-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg85Thrfs*4) 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 in an individual affected with nevoid basal cell carcinoma syndrome (PMID: 16088933). Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). For these reasons, this variant has been classified as Pathogenic.
Duke University Health System Sequencing Clinic, Duke University Health System RCV000628352 SCV003918996 pathogenic Gorlin syndrome 2023-04-20 criteria provided, single submitter research

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