Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000129110 | SCV000183822 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-09-08 | criteria provided, single submitter | clinical testing | Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity |
Invitae | RCV000206112 | SCV000261727 | likely pathogenic | Hereditary nonpolyposis colorectal neoplasms | 2019-05-29 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 8 of the PMS2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals with clinical features consistent with Lynch syndrome (PMID: 25117502, 27696107). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in PMS2 are known to be pathogenic (PMID: 21376568, 24362816). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Counsyl | RCV000576592 | SCV000677800 | likely pathogenic | Hereditary nonpolyposis colorectal cancer type 4 | 2017-02-14 | criteria provided, single submitter | clinical testing | |
Color | RCV000129110 | SCV000686254 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-09 | criteria provided, single submitter | clinical testing |