Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076876 | SCV000108369 | pathogenic | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | Coding sequence variation resulting in a stop codon |
Invitae | RCV001854342 | SCV002241865 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2022-02-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs63751029, gnomAD 0.003%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 91358). This premature translational stop signal has been observed in individual(s) with constitutional mismatch repair deficiency syndrome (PMID: 16507833, 30478739). This sequence change creates a premature translational stop signal (p.Tyr181*) 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). |
Sema4, |
RCV002257402 | SCV002530359 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-11-19 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV003452994 | SCV004188662 | pathogenic | Lynch syndrome 4 | 2023-09-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |