Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064447 | SCV001229350 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2023-03-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 858553). This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn293Lysfs*6) 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). |
Ambry Genetics | RCV002374966 | SCV002685144 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-12-21 | criteria provided, single submitter | clinical testing | The c.878dupA pathogenic mutation, located in coding exon 8 of the PMS2 gene, results from a duplication of A at nucleotide position 878, causing a translational frameshift with a predicted alternate stop codon (p.N293Kfs*6). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV003455283 | SCV004188578 | pathogenic | Lynch syndrome 4 | 2023-09-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |