ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.407dup (p.Ser137fs)

dbSNP: rs1564063386
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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 RCV000681475 SCV001208269 pathogenic Gorlin syndrome 2019-05-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). This variant has not been reported in the literature in individuals with PTCH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 562011). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser137Lysfs*3) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product.
Hehr Laboratory, Center for Human Genetics Regensburg RCV000681475 SCV000808925 likely pathogenic Gorlin syndrome 2016-12-13 no assertion criteria provided clinical testing

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