Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003278578 | SCV004007906 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-18 | criteria provided, single submitter | clinical testing | The c.3074dupC pathogenic mutation, located in coding exon 10 of the PALB2 gene, results from a duplication of C at nucleotide position 3074, causing a translational frameshift with a predicted alternate stop codon (p.L1026Sfs*27). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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, |
RCV003455791 | SCV004186226 | pathogenic | Familial cancer of breast | 2023-09-14 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
Baylor Genetics | RCV003455791 | SCV004202762 | likely pathogenic | Familial cancer of breast | 2022-01-18 | criteria provided, single submitter | clinical testing |