ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.1615dup (p.Glu539fs)

dbSNP: rs878853847
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000477982 SCV000572431 pathogenic not provided 2016-12-05 criteria provided, single submitter clinical testing The c.1615dupG variant in the PTCH1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This duplication causes a frameshift starting with codon Glutamic Acid 539, changes this amino acid to a Glycine residue and creates a premature Stop codon at position 88 of the new reading frame, denoted p.Glu539GlyfsX88. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Based on currently available evidence, we consider c.1615dupG to be pathogenic.

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