Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001023835 | SCV001185765 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-06 | criteria provided, single submitter | clinical testing | The c.527_531delTAAAG pathogenic mutation, located in coding exon 4 of the PALB2 gene, results from a deletion of 5 nucleotides at nucleotide positions 527 to 531, causing a translational frameshift with a predicted alternate stop codon (p.L176Rfs*7). 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, |
RCV003455126 | SCV004186092 | pathogenic | Familial cancer of breast | 2023-09-06 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Color Diagnostics, |
RCV001023835 | SCV004357980 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-09-12 | criteria provided, single submitter | clinical testing | This variant deletes 5 nucleotides in exon 4 of the PALB2 gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of PALB2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |