ClinVar Miner

Submissions for variant NM_001083602.2(PTCH1):c.463G>T (p.Glu155Ter) (rs1554700647)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657639 SCV000779384 pathogenic not provided 2017-01-23 criteria provided, single submitter clinical testing This variant is denoted PTCH1 c.661G>T at the cDNA level and p.Glu221Ter (E221X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in at least one individual with features of Gorlin syndrome (Klein 2005) and is considered pathogenic.

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