Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000219047 | SCV000274000 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-04-10 | criteria provided, single submitter | clinical testing | The p.Q93* pathogenic mutation (also known as c.277C>T), located in coding exon 3 of the BARD1 gene, results from a C to T substitution at nucleotide position 277. This changes the amino acid from a glutamine to a stop codon within coding exon 3. 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 | RCV000635720 | SCV000757141 | pathogenic | Familial cancer of breast | 2017-10-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BARD1 are known to be pathogenic (PMID: 20077502, 21344236). This variant has not been reported in the literature in individuals with BARD1-related disease. ClinVar contains an entry for this variant (Variation ID: 230447). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln93*) in the BARD1 gene. It is expected to result in an absent or disrupted protein product. |