Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001775042 | SCV002011815 | likely pathogenic | Lynch syndrome | 2018-11-20 | criteria provided, single submitter | clinical testing | The substitution is predicted to cause abnormal gene splicing, leading to an abnormal protein message, but experimental evidence is still unavailable. This variant it has no frecuency data in the gnomAD exomes database. Variants that affect the same splice site such as c.3801+1delG and c.3801+1_3801+5delGTATG have been observed patients diagnosed with ovarian cancer (PMID: 21388660), and constitutional mismatch repair deficiency syndrome (PMID: 26200421), respectively. Based on these findings and the limited literature regarding this substitution we consider it as a “likely pathogenic variant”. |