PTPRT screening in additional CRC families
The mutational screening of PTPRT in 473 additional CRC families
revealed another germline missense variant that passed the filtering
strategy used for our cohort, NM_133170.4: c.2837C>G,
p.(Ser946Cys) (rs866132388). This variant was found in a
Bethesda-positive family and is rare in the general population
(MAF=0.00041 according to gnomAD). In addition, it is predicted to be
damaging by all 5 in silico programs used and affects the first
phosphatase domain of the protein (D1).