Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076826 | SCV000108313 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV002514361 | SCV003439935 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile590Phefs*5) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91314). This premature translational stop signal has been observed in individual(s) with constitutional mismatch repair deficiency syndrome (PMID: 17851451). This variant is not present in population databases (gnomAD no frequency). |