Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657455 | SCV000779190 | pathogenic | not provided | 2018-01-26 | criteria provided, single submitter | clinical testing | This duplication of one nucleotide in PTCH1 is denoted c.3314dupT at the cDNA level and p.Thr1106AspfsX39 (T1106DfsX39) at the protein level. The normal sequence, with the base that is duplicated in brackets, is TTTC[dupT]GACG. The duplication causes a frameshift which changes a Threonine to an Aspartic Acid at codon 1106, and creates a premature stop codon at position 39 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic. |