Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000550807 | SCV000633028 | uncertain significance | Familial cancer of breast | 2019-11-22 | criteria provided, single submitter | clinical testing | This sequence change affects the initiator methionine of the BARD1 mRNA. However, another in-frame methionine that is highly conserved in mammals is located 25 codons downstream (p.Met26) and could potentially rescue the loss of initiator codon. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a BARD1-related disease. In summary, this variant is a novel initiatior codon change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Experimental studies have not been reported for this initiation codon variant and it is currently unknown if translation is rescued by either an in-frame or out-of-frame methionine. |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000985352 | SCV001133449 | uncertain significance | not provided | 2019-06-11 | criteria provided, single submitter | clinical testing |