ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1305+1G>C (rs864622293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478859 SCV000567004 pathogenic not provided 2015-07-21 criteria provided, single submitter clinical testing The c.1503+1 G>C splice site variant in the PTCH1 gene has been previously reported in association withGorlin syndrome (Klein et al., 2005). This variant destroys the canonical splice donor site in intron 10, and isexpected to cause abnormal gene splicing. Therefore, we consider the c.1503+1 G>C variant in PTCH1 as pathogenic.
Invitae RCV000204242 SCV000259999 likely pathogenic Gorlin syndrome 2015-08-17 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 10. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. Truncating variants in PTCH1 are known to be pathogenic. This particular truncation has been reported in an individual diagnosed with nevoid basal cell carcinoma syndrome (PMID: 16301862). For these reasons, this variant has been classified as Likely Pathogenic.

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