ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2701C>T (p.Gln901Ter)

dbSNP: rs1064796618
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480196 SCV000573502 pathogenic not provided 2020-11-04 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001227735 SCV001400105 pathogenic Gorlin syndrome 2019-11-07 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: 423765). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln901*) in the PTCH1 gene. It is expected to result in an absent or disrupted protein product.

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