Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001048640 | SCV001212654 | pathogenic | Familial cancer of breast | 2022-12-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 845553). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln829*) in the PALB2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PALB2 are known to be pathogenic (PMID: 17200668, 17200671, 17200672, 24136930, 25099575). |
Ambry Genetics | RCV003283899 | SCV004007894 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-18 | criteria provided, single submitter | clinical testing | The p.Q829* pathogenic mutation (also known as c.2485C>T), located in coding exon 5 of the PALB2 gene, results from a C to T substitution at nucleotide position 2485. This changes the amino acid from a glutamine to a stop codon within coding exon 5. This variant has been identified in multiple breast cancer cohorts (Hayat M et al. JCO Glob Oncol, 2021 Sep;7:1462-1471; Park JS et al. Cancer Res Treat, 2022 Oct;54:1099-1110). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). As such, this alteration is interpreted as a disease-causing mutation. |
Myriad Genetics, |
RCV001048640 | SCV004189403 | pathogenic | Familial cancer of breast | 2023-09-12 | 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. |