Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000662619 | SCV000785282 | likely pathogenic | Familial cancer of breast | 2017-06-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000662619 | SCV000820451 | pathogenic | Familial cancer of breast | 2018-04-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Glu159*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PALB2-related disease. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). |
Myriad Genetics, |
RCV000662619 | SCV004019214 | pathogenic | Familial cancer of breast | 2023-03-30 | 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. |