ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3044_3071del (p.Phe1015fs)

dbSNP: rs886039678
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255395 SCV000322619 pathogenic not provided 2016-07-07 criteria provided, single submitter clinical testing The c.3044_3071del28 variant in the PTCH1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Phenylalanine 1015, changes this amino acid to a Serine residue and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Phe1015SerfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3044_3071del28 variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Based on currently available evidence, we consider c.3044_3071del28 to be pathogenic.

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