ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.2971-1G>A (rs1060502285)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598878 SCV000709833 likely pathogenic not provided 2018-03-02 criteria provided, single submitter clinical testing The c.3169-1 G>A splice site variant in the PTCH1 gene destroys the canonical splice acceptor site in intron 18. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. This variant is not observed in large population cohorts (Lek et al., 2016). Although c.3169-1 G>A has not been previously reported to our knowledge, we consider it to be a likely pathogenic variant.
Invitae RCV000469522 SCV000549079 likely pathogenic Gorlin syndrome 2016-11-26 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 18 of the PTCH1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with a PTCH1-related disease. In summary, donor and acceptor splice site variants are typically loss-of-function (PMID: 16199547), and loss-of-function variants in PTCH1 are known to be pathogenic (PMID: 16301862, 16419085). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.

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