ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1093C>T (p.Gln365Ter)

dbSNP: rs267606984
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144436 SCV001206810 pathogenic Gorlin syndrome 2021-04-18 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 been observed in an individual affected with basal cell nevus syndrome (BCNS) (PMID: 29575684). ClinVar contains an entry for this variant (Variation ID: 156352). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln365*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product.
OMIM RCV000144436 SCV000028905 pathogenic Gorlin syndrome 2023-04-24 no assertion criteria provided literature only
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000144436 SCV000189491 not provided Gorlin syndrome no assertion provided not provided

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