Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000565489 | SCV000668410 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-12-13 | criteria provided, single submitter | clinical testing | The c.83delT pathogenic mutation, located in coding exon 2 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 83, causing a translational frameshift with a predicted alternate stop codon (p.L28Rfs*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. |
| Labcorp Genetics |
RCV001380469 | SCV001578551 | pathogenic | Hereditary breast ovarian cancer syndrome | 2024-09-14 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu28Argfs*3) 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 variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 482898). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003459344 | SCV004216994 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-02-21 | criteria provided, single submitter | clinical testing |