ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.408del (p.Leu136fs) (rs1064794117)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483470 SCV000567884 pathogenic not provided 2015-09-18 criteria provided, single submitter clinical testing The c.606delG deletion in the PTCH1 gene causes a frameshift starting with codon Leucine 202, changes this amino acid to a Phenylalanine residue and creates a premature Stop codon at position 18 of the new reading frame, denoted p.Leu202PhefsX18. This deletion is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Although this variant has not been previously reported to our knowledge, other frameshift variants have been reported in the PTCH1 gene in association with Gorlin syndrome (Stenson et al., 2014). Therefore, we consider c.606delG to be a pathogenic variant.

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