Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001775048 | SCV002011823 | likely pathogenic | Lynch syndrome | 2019-05-08 | criteria provided, single submitter | clinical testing | This variant results in an amino acid alteration, replacing a glutamine (Q) with a premature stop codon at position 485 noted as p.Gln485Ter or p.Q485*. The substitution is predicted to result in a non-functional protein, either through protein truncation or nonsense-mediated mRNA decay. This variant is considered a non-tolerated amino acid change based on “in silico” prediction algorithms , and it has not been reported in the ClinVar Database (NCBI National Library of Medicine, NIH, Bethesda MD) or in gnomAD exomes. Based on these findings and the limited literature regarding this substitution we consider it as a “likely pathogenic variant”. |