ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.4-1655dup (rs751977093)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599605 SCV000710241 likely pathogenic not provided 2017-12-07 criteria provided, single submitter clinical testing The c.114dupG variant in the PTCH1 gene has not, to our knowledge, been published in the literature as a germline variant; however, it has been reported as a somatic variant in a brain hamartoma (Hildebrand et al., 2016). This duplication causes a frameshift, starting with codon Leucine 39, changes this amino acid to an Alanine residue, and creates a premature stop codon at position 51 of the new reading frame, denoted p.Leu39AlafsX51. The c.114dupG variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant is not observed in large population cohorts (Lek et al., 2016). Based on the currently available evidence, we interpret c.144dupG as a likely pathogenic variant

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