Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001016521 | SCV001177483 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-06-07 | criteria provided, single submitter | clinical testing | The p.S92* pathogenic mutation (also known as c.275C>G), located in coding exon 3 of the BRIP1 gene, results from a C to G substitution at nucleotide position 275. This changes the amino acid from a serine to a stop codon within coding exon 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. |
Myriad Genetics, |
RCV003336245 | SCV004043021 | pathogenic | Familial cancer of breast | 2023-05-30 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |