Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001030190 | SCV001389715 | pathogenic | Familial cancer of breast | 2019-06-27 | 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 been observed in an individual affected with breast cancer (PMID: 25099575). ClinVar contains an entry for this variant (Variation ID: 143980). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser319*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV001030190 | SCV004186257 | pathogenic | Familial cancer of breast | 2023-09-07 | 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. |
SNPedia | RCV000133494 | SCV000188568 | pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Pathogenic. | |
Leiden Open Variation Database | RCV001030190 | SCV001193045 | pathogenic | Familial cancer of breast | 2019-05-13 | no assertion criteria provided | curation | Curators: Marc Tischkowitz, Arleen D. Auerbach. Submitter to LOVD: Marc Tischkowitz. |