Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000554077 | SCV000625578 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-11-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Met672Ilefs*16) 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). The frequency data for this variant in the population databases (gnomAD) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 28874130). ClinVar contains an entry for this variant (Variation ID: 455681). For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV003139749 | SCV003806546 | pathogenic | Lynch syndrome 4 | 2023-01-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |