Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018411 | SCV001179647 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-10-21 | criteria provided, single submitter | clinical testing | The c.885_886insG pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from an insertion of one nucleotide at position 885, causing a translational frameshift with a predicted alternate stop codon (p.M296Dfs*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. |
| Labcorp Genetics |
RCV001231405 | SCV001403925 | pathogenic | Familial cancer of breast | 2020-07-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 24136930, 25099575). This variant has not been reported in the literature in individuals with PALB2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met296Aspfs*7) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. |
| Myriad Genetics, |
RCV001231405 | SCV004186187 | pathogenic | Familial cancer of breast | 2023-09-07 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV001231405 | SCV004202055 | likely pathogenic | Familial cancer of breast | 2023-10-04 | criteria provided, single submitter | clinical testing |