Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001064157 | SCV001229039 | pathogenic | Familial cancer of breast | 2023-12-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1010*) 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: 858309). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002436654 | SCV002753156 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-07-01 | criteria provided, single submitter | clinical testing | The p.E1010* pathogenic mutation (also known as c.3028G>T), located in coding exon 10 of the PALB2 gene, results from a G to T substitution at nucleotide position 3028. This changes the amino acid from a glutamic acid to a stop codon within coding exon 10. 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. |
Myriad Genetics, |
RCV001064157 | SCV004189415 | pathogenic | Familial cancer of breast | 2023-09-14 | 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. |