ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.1417del (p.Glu473fs) (rs878853847)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000434399 SCV000510625 pathogenic not provided 2016-08-19 criteria provided, single submitter clinical testing
Invitae RCV000231863 SCV000284316 pathogenic Gorlin syndrome 2016-04-06 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 12 of the PTCH1 mRNA (c.1615delG), causing a frameshift at codon 539. This creates a premature translational stop signal (p.Glu539Serfs*3) and is expected to result in an absent or disrupted protein product. Truncating variants in PTCH1 are known to be pathogenic. This particular truncation has been reported to segregate with Gorlin syndrome in a single family (PMID: 15459969). It was seen in 4 family members, with phenotypes of nevoid basal cell carcinoma, jaw cysts, and eye anomalies. For these reasons, this variant has been classified as Pathogenic.

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