Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000532723 | SCV000632955 | pathogenic | Familial cancer of breast | 2023-05-08 | 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: 460706). This variant has not been reported in the literature in individuals affected with BARD1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Cys469*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). |
| Ambry Genetics | RCV000565469 | SCV000665725 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-04-05 | criteria provided, single submitter | clinical testing | The p.C469* pathogenic mutation (also known as c.1407C>A), located in coding exon 6 of the BARD1 gene, results from a C to A substitution at nucleotide position 1407. This changes the amino acid from a cysteine to a stop codon within coding exon 6. 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, |
RCV000532723 | SCV004044031 | pathogenic | Familial cancer of breast | 2023-05-23 | 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. |
| Baylor Genetics | RCV000532723 | SCV004217210 | likely pathogenic | Familial cancer of breast | 2023-08-02 | criteria provided, single submitter | clinical testing |