Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000571927 | SCV000666851 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-05-06 | criteria provided, single submitter | clinical testing | The c.1972delG pathogenic mutation, located in coding exon 5 of the PALB2 gene, results from a deletion of one nucleotide at nucleotide position 1972, causing a translational frameshift with a predicted alternate stop codon (p.E658Nfs*2). 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. |
| Invitae | RCV001858207 | SCV002161488 | pathogenic | Familial cancer of breast | 2022-09-14 | 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: 482004). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 32427313). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu658Asnfs*2) 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). |
| Myriad Genetics, |
RCV001858207 | SCV004188480 | pathogenic | Familial cancer of breast | 2023-09-12 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Laboratory for Genotyping Development, |
RCV003159963 | SCV002758448 | pathogenic | Gastric cancer | 2021-07-01 | no assertion criteria provided | research |