Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003288411 | SCV004004310 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-04-06 | criteria provided, single submitter | clinical testing | The c.3301dupA pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a duplication of A at nucleotide position 3301, causing a translational frameshift with a predicted alternate stop codon (p.S1101Kfs*2). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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. |
| Baylor Genetics | RCV003459821 | SCV004216883 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2022-11-19 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477074 | SCV004219348 | likely pathogenic | not provided | 2023-05-03 | criteria provided, single submitter | clinical testing | This frameshift variant alters the translational reading frame of the BRCA1 mRNA and is predicted to cause the premature termination of BRCA1 protein synthesis. To the best of our knowledge, the variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as likely pathogenic. |