Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076829 | SCV000108316 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV002514362 | SCV003439937 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-04-19 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 91316). This sequence change creates a premature translational stop signal (p.Tyr61Leufs*15) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of neurofibromatosis type 1 (PMID: 18030674). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003452987 | SCV004188717 | pathogenic | Lynch syndrome 4 | 2023-09-18 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
OMIM | RCV000009828 | SCV000030049 | pathogenic | Mismatch repair cancer syndrome 4 | 2008-02-01 | no assertion criteria provided | literature only |