Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000412196 | SCV000488750 | likely pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2016-06-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003298419 | SCV004004296 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-03-23 | criteria provided, single submitter | clinical testing | The p.Y1769* pathogenic mutation (also known as c.5307T>G), located in coding exon 19 of the BRCA1 gene, results from a T to G substitution at nucleotide position 5307. This changes the amino acid from a tyrosine to a stop codon within coding exon 19. One functional study found that this nucleotide substitution is non-functional in a high-throughput, genome editing, haploid cell survival assay (Findlay GM et al. Nature, 2018 Oct;562:217-222). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, 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. |
Brotman Baty Institute, |
RCV000412196 | SCV001238502 | not provided | Breast-ovarian cancer, familial, susceptibility to, 1 | no assertion provided | in vitro |