Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001231607 | SCV001404135 | pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). This variant has not been reported in the literature in individuals with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val302Glyfs*7) in the PMS2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002375234 | SCV002683528 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-03-13 | criteria provided, single submitter | clinical testing | The c.902dupA variant, located in coding exon 8 of the PMS2 gene, results from a duplication of A at nucleotide position 902, causing a translational frameshift with a predicted alternate stop codon (p.V302Gfs*7). 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. |