Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052426 | SCV001216636 | pathogenic | Hereditary breast ovarian cancer syndrome | 2023-09-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys357*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (PMID: 25480878). This variant is also known as 1188A>T. ClinVar contains an entry for this variant (Variation ID: 848630). For these reasons, this variant has been classified as Pathogenic. |