Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000661002 | SCV000783242 | pathogenic | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-12-15 | reviewed by expert panel | curation | Variant allele predicted to encode a truncated non-functional protein. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000506515 | SCV000600333 | pathogenic | not provided | 2016-12-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001020267 | SCV001181723 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-02-28 | criteria provided, single submitter | clinical testing | The c.3424delG pathogenic mutation, located in coding exon 9 of the BRCA1 gene, results from a deletion of one nucleotide at nucleotide position 3424, causing a translational frameshift with a predicted alternate stop codon (p.A1142Hfs*13). 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. |