Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256010 | SCV000322629 | likely pathogenic | not provided | 2016-07-19 | criteria provided, single submitter | clinical testing | This variant is denoted PALB2 c.421C>T at the cDNA level and p.Gln141Ter (Q141X) at the proteinlevel. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG),and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNAdecay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic. |
Myriad Genetics, |
RCV003454783 | SCV004189426 | pathogenic | Familial cancer of breast | 2023-09-06 | 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. |
Invitae | RCV003454783 | SCV004323123 | pathogenic | Familial cancer of breast | 2023-08-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln141*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PALB2-related conditions. ClinVar contains an entry for this variant (Variation ID: 265636). For these reasons, this variant has been classified as Pathogenic. |